1.Univariate and multivariate regression analysis of femoral neck shortening after cannulated screw fixation in femoral neck fractures
Xinbao XU ; Feiyang CHEN ; Yinbing CHEN ; Feixiang ZHANG ; Shujun LYU ; Haidong CUI ; Zhigang CHEN
Chinese Journal of Tissue Engineering Research 2026;30(3):620-625
BACKGROUND:With the development of the aging trend of society,the incidence of femoral neck fractures is increasing.Currently,the preferred surgical treatment is cannulated screw internal fixation.However,post-surgical femoral neck shortening occurs in some cases,resulting in impaired hip functionality.OBJECTIVE:To investigate the incidence of femoral neck shortening following the use of half-threaded cannulated screws for internal fixation in patients with femoral neck fractures,to analyze the effect on hip function,and to identify factors contributing to neck shortening.METHODS:A retrospective analysis was conducted on the medical records of 102 patients treated with half-threaded cannulated screws in an inverted triangle setup for femoral neck fractures at Affiliated Hai'an Hospital of Nantong University from January 2016 to January 2021.This group included 36 males and 66 females at the mean age of(57.2±7.7)years,with 34 cases of Garden type Ⅰ and Ⅱ fractures and 68 of Garden type Ⅲ and Ⅳ fractures.The mean bone mineral density value T was-2.8 SD.The Harris score was used to evaluate the hip function.During the follow-up period,the occurrence of femoral neck shortening was determined using X-ray imagery,and the factors influencing this shortening were examined using both univariate and multivariate regression analyses.RESULTS AND CONCLUSION:(1)Among the 102 patients with femoral neck fractures,30 patients developed femoral neck shortening,accounting for 29.4%.72 patients had no femoral neck shortening(70.6%).(2)The Harris score for patients experiencing neck shortening was significantly lower than that for patients without shortening(P<0.05).(3)The study identified several factors associated with femoral neck shortening following the internal fixation of femoral neck fractures included age,gender,bone mineral density value T,preoperative Garden classification,and quality of reduction.These factors not only affect the shortening of the femoral neck after surgery,but are also directly related to the functional performance of the patient's hip joint.(4)Femoral neck shortening after surgery for femoral neck fracture is associated with various clinical parameters,especially the patient's age,gender,bone mineral density,preoperative classification,and accuracy of reduction during surgery.
2.Univariate and multivariate regression analysis of femoral neck shortening after cannulated screw fixation in femoral neck fractures
Xinbao XU ; Feiyang CHEN ; Yinbing CHEN ; Feixiang ZHANG ; Shujun LYU ; Haidong CUI ; Zhigang CHEN
Chinese Journal of Tissue Engineering Research 2026;30(3):620-625
BACKGROUND:With the development of the aging trend of society,the incidence of femoral neck fractures is increasing.Currently,the preferred surgical treatment is cannulated screw internal fixation.However,post-surgical femoral neck shortening occurs in some cases,resulting in impaired hip functionality.OBJECTIVE:To investigate the incidence of femoral neck shortening following the use of half-threaded cannulated screws for internal fixation in patients with femoral neck fractures,to analyze the effect on hip function,and to identify factors contributing to neck shortening.METHODS:A retrospective analysis was conducted on the medical records of 102 patients treated with half-threaded cannulated screws in an inverted triangle setup for femoral neck fractures at Affiliated Hai'an Hospital of Nantong University from January 2016 to January 2021.This group included 36 males and 66 females at the mean age of(57.2±7.7)years,with 34 cases of Garden type Ⅰ and Ⅱ fractures and 68 of Garden type Ⅲ and Ⅳ fractures.The mean bone mineral density value T was-2.8 SD.The Harris score was used to evaluate the hip function.During the follow-up period,the occurrence of femoral neck shortening was determined using X-ray imagery,and the factors influencing this shortening were examined using both univariate and multivariate regression analyses.RESULTS AND CONCLUSION:(1)Among the 102 patients with femoral neck fractures,30 patients developed femoral neck shortening,accounting for 29.4%.72 patients had no femoral neck shortening(70.6%).(2)The Harris score for patients experiencing neck shortening was significantly lower than that for patients without shortening(P<0.05).(3)The study identified several factors associated with femoral neck shortening following the internal fixation of femoral neck fractures included age,gender,bone mineral density value T,preoperative Garden classification,and quality of reduction.These factors not only affect the shortening of the femoral neck after surgery,but are also directly related to the functional performance of the patient's hip joint.(4)Femoral neck shortening after surgery for femoral neck fracture is associated with various clinical parameters,especially the patient's age,gender,bone mineral density,preoperative classification,and accuracy of reduction during surgery.
3.Clinical Experience of Treating Ulcerative Colitis with"Carbuncle"
Yujie XI ; Haidong CUI ; Guoying LIANG
Journal of Zhejiang Chinese Medical University 2024;48(3):332-336
[Objective]To summarize the experience of modern doctors in treating ulcerative colitis(UC)with"carbuncle",in order to provide more thinking for the treatment of UC by traditional Chinese medicine(TCM).[Methods]From the perspective of treating UC with"carbuncle",the etiology,pathogenesis,syndrome differentiation and treatment strategy of modern doctors treating UC with"carbuncle"were summarized by collating relevant experience articles of modern doctors.[Results]Modern doctors treat UC as"carbuncle",and believe that the cause of UC is related to exogenous evil,improper diet,mood failure,body deficiency and fatigue,the pathogenesis of which is the deficiency in origin and excess in superficiality,deficiency and excess are mixed with spleen deficiency,dampness,heat,blood stasis and poison.In the active stage of the disease,the main cause is evil and excess;in the remission stage,the main cause is spleen and kidney deficiency.Local syndrome differentiation and Yin-Yang syndrome differentiation are emphasized.In the treatment,the three methods of dispersing,promoting and tonifying are applied flexibly,dysentery and carbuncle are treated together,both inside and outside should be treated.[Conclusion]Treating UC as"carbuncle"is an effective TCM diagnosis and treatment idea,and provides a reference for exploring TCM treatment strategies.
4.Discussion on Effects of Electroacupuncture on Intestinal Flora and Serum Inflammation Factors in Rheumatoid Arthritis Rabbits Based on"Gut-joint"Axis
Cui LIU ; Xiaozheng DU ; Weiyao JING ; Chenghong SU ; Limei LIU ; Bo YUAN ; Xinghua ZHANG ; Fengfan ZHANG ; Ping CHEN ; Xiangjun LI ; Haidong WANG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(4):124-131
Objective To observe the effects of electroacupuncture on intestinal flora and serum inflammatory factors in rabbit model with rheumatoid arthritis(RA);To explore the mechanism of its therapeutic effect on RA.Methods RA model rabbits were established by ovalbumin induction combined with Freund's complete adjuvant,and the rabbits after successful modeling were randomly divided into model group,probiotic group and electroacupuncture group,with 6 rabbits in each group.Another 6 rabbits were set as the normal group.The electroacupuncture group received electroacupuncture at the bilateral"Zusanli"and"Dubi"for 30 minutes,the probiotic group was given probiotic capsules solution(14.5 mg/kg)by gavage,once a day,for two consecutive weeks.The knee joint circumference and pain threshold of rabbits were measured,histopathological morphological changes of colonic tissue and synovial tissue ws observed by HE staining,16S rDNA sequencing was used to analyze structural changes of intestinal flora,the contents of TNF-α,IL-1β and IL-6 in serum were detected by ELISA.Results Compared with the normal group,the circumference of knee joint of rabbits in the model group increased significantly,the pain threshold was significantly decreased(P<0.01);the colonic mucosal damage was serious,the goblet cells were missing,a large number of inflammatory cells were infiltrate;the joint capsule synovial surface was rough,the synovial cell layer was hyperplasia and thickening,the synovial tissue inflammatory cell infiltration was obvious;the number and evenness of gut microbiota species decreased,while the relative abundance of Proteobacteria,Firmicutes,and Bacteroidetes decreased(P<0.05,P<0.01),the relative abundance of Desulfobacteria increased(P<0.01),while the relative abundance of Campylobacter,Lawsonella,and Pseudomonas increased(P<0.01),while the relative abundance of Heshanomonas and Herbaspirillum decreased(P<0.01);the contents of serum TNF-α,IL-1β and IL-6 increased(P<0.01).Compared with the model group,the knee joint circumference of the probiotic group and the electroacupuncture group decreased,the pain threshold increased(P<0.01,P<0.05);the degree of intestinal mucosal damage was reduced,the goblet cells were basically arranged neatly,the inflammatory cell infiltration was reduced;synovial cells proliferation and thickening decreased,with a small amount of inflammatory cell infiltration;the number and evenness of gut microbiota species increased,while the relative abundance of Proteobacteria,Firmicutes,and Bacteroidetes increased(P<0.05,P<0.01),the relative abundance of Desulfobacteria decreased(P<0.01),while the relative abundance of Campylobacter,Lawsonella and Pseudomonas decreased(P<0.01),the relative abundance of Heshanomonas and Herbaspirillum increased(P<0.05,P<0.01);the contents of serum TNF-α,IL-1β and IL-6 significantly decreased(P<0.01).Conclusion Electroacupuncture can significantly improve the symptoms of RA rabbits and reduce the inflammatory reaction in synovial tissue of joint,and the mechanism may be related to the regulation of intestinal flora structure.
5.Correlation between digital mammography features,LMR level and clinical prognosis in patient with invasive breast cancer
Guangmei LI ; Shuihong CHEN ; Xiaoli LOU ; Haidong CUI
Journal of Practical Radiology 2024;40(5):729-732
Objective To analyze the correlation between digital mammography features,lymphocyte to monocyte ratio(LMR)and prognosis in patient with invasive breast cancer,and to explore the prognostic value of digital mammography features and LMR in invasive breast cancer.Methods Ninety-six patients with invasive breast cancer were selected.The data of digital mammography features and serum LMR levels were analyzed.The patients were followed up after discharge.According to different prognosis,all patients were divided into good prognosis group(68 cases)and poor prognosis group(28 cases).Spearman was used to analyze the correlation of digital mammography features,LMR level and prognosis of patients.Receiver operating characteristic(ROC)curve was drawn to analyze the prognostic value of digital mammography features and LMR level.Results The spicule sign and proportion of calcifica-tion in the poor prognosis group was significantly higher than that in the good prognosis group,the maximum diameter of tumor was significantly larger than that in the good prognosis group,and the serum LMR level was significantly lower than that in the good prognosis group(P<0.05).Spearman correlation analysis showed that spicule sign,proportion of calcification and maximum diame-ter of tumor were positively correlated with poor prognosis of invasive breast cancer(P<0.05).Serum LMR level was negatively correlated with poor prognosis of invasive breast cancer(P<0.05).ROC curve analysis showed that the area under the curve(AUC)of spicule sign,calcification and tumor maximum diameter combined with LMR level to evaluate the prognosis of invasive breast cancer was 0.927,the sensitivity was 89.71%,and the specificity was 82.14%,which were significantly higher than those of each index alone.Conclusion Digital mammography and serum LMR levels may be closely related to the prognosis of patients with invasive breast cancer,and spicule sign,calcification,tumor maximum diameter combined with serum LMR may be of significant prognostic value in invasive breast cancer.
6.Clinical manifestation, muscular imaging and pathological characteristics of anti-signal recognition particle positive immune-mediated necrotizing myopathy
Shiyao LI ; Qianqian QU ; Xianzhao ZHENG ; Xiaoli MA ; Wenhao CUI ; Dan LI ; Zheng LYU ; Jiongbo ZHAO ; Jiaxuan WANG ; Cong HU ; Haidong LYU
Chinese Journal of Neurology 2024;57(9):1000-1008
Objective:To analyze the clinical characteristics, muscle imaging and pathological features of patients with anti-signal recognition particle positive immune-mediated necrotizing myopathy (SRP-IMNM).Methods:Nine patients with SRP-IMNM were collected in the Neuromuscular Disease Center of Jiaozuo People′s Hospital from May 2018 to May 2023, who were confirmed by skeletal muscle pathology and myositis-specific autoantibodies detection, and their clinical manifestations, muscle imaging and muscle pathology characteristics were systematically summarized.Results:Among the 9 patients with SRP-IMNM, there were 7 females and 2 males. The age of onset ranged from 18 to 59 years. All the patients presented proximal muscle weakness. Seven patients experienced neck weakness, and dysphagia was present in 5 patients. Laboratory examinations showed elevated serum creatine kinase levels in all 9 patients (1 866-6 725 U/L). Eight patients were combined with other antibodies positivity, except for anti-SRP antibody. Among them, 7 patients were combined with anti-Ro-52 antibody positivity, 4 patients combined with anti-Ro-52 antibody positivity alone, and 3 patients combined with 3 or more positive antibodies simultaneously. Those patients who presented with interstitial lung disease and cardiac involvement were all combined with other antibodies positivity. Seven patients completed thigh muscle magnetic resonance imaging (MRI), which showed diffuse skeletal muscle oedema, partial muscle atrophy and fatty replacement, primarily affecting the posterior thigh muscle group. Two patients underwent shank muscle MRI. The soleus involvement was evident, while the tibialis anterior muscle and gastrocnemius muscles were involved in 1 patient. All 9 patients showed varying degrees of scattered muscle fiber necrosis and regeneration on muscle biopsies. In 1 patient, a small amount of inflammatory cell infiltration was observed. Pipestem capillaries were observed in 4 patients. Immunohistochemical staining revealed a small number of CD68-positive lymphocytes in 8 patients. Additionally, 5 patients showed upregulation of major histocompatibility complex Ⅰ expression on the muscle fiber membrane, while 6 patients showed deposition of membrane attack complex (C5b-9) on non-necrotic muscle fibers and capillaries. P62 staining showed homogeneous fine-granular in sarcoplasm in 6 patients.Conclusions:In addition to proximal muscle weakness, patients with SRP-IMNM often experience neck weakness and dysphagia. Those with multiple antibodies are more likely to develop interstitial lung disease and cardiac involvement. SRP-IMNM patients have diffuse oedema in the affected muscles, and the posterior thigh muscles are more prone to atrophy and fatty tissue formation. C5b-9 deposition and pipestem capillaries are significant pathological features of SRP-IMNM, which provide additional evidence for clinical diagnosis.
7.Study on the Mechanism and Effects of Needle-knife Tendon-sparing and Knot-dissolving Technique on Synovial Inflammation of Rheumatoid Arthritis Rabbits
Ping CHEN ; Haidong WANG ; Xiaozheng DU ; Weiyao JING ; Cui LIU ; Haolin LI ; Pengfei TAO
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(7):91-99
Objective To observe the effects of needle-knife tendon-sparing and knot-dissolving technique on NF-κB/Bcl-2 pathway activity and the expression of TNF-α,IL-1β,IL-6,Bax and caspase-3 in synovial tissue of knee joints of rabbits with rheumatoid arthritis(RA)model;To explore the mechanism of its inhibitory effect on RA synovial inflammation.Methods Totally 24 New Zealand white rabbits were randomly divided into normal group,model group,drug group and needle-knife group,with 6 rabbits in each group.Except for the normal group,the other groups were injected with ovalbumin and Freund's complete adjuvant into the knee joint cavity to replicate the RA model,and corresponding interventions were given for 18 consecutive days.The knee pain threshold and knee circumference were measured,ultrasound was used to observe the joint cavity effusion,synovial thickness and internal blood flow signals,the synovial tissue morphology were observed by HE staining,the apoptosis of fibroblast-like synoviocytes(FLS)in synovial tissue was observed by TUNEL staining,the expression of TNF-α,IL-1β and IL-6 in synovial tissue were detected by immunohistochemistry,RT-PCR was used to detect NF-κBp65 and Bcl-2 mRNA expression in synovial tissue,Western blot was used to detect the protein expression of NF-κBp65,p-NF-κBp65,Bcl-2,Bax and caspase-3 in synovial tissue.Results Compared with the normal group,the knee pain threshold decreased,knee circumference increased,ultrasonic score and pathological score of synovial tissue increased in the model group;FLS apoptosis rate decreased,the expression of TNF-α,IL-1β and IL-6 in synovial tissue increased,the expressions of NF-κBp65,Bcl-2 mRNA and protein,and p-NF-κBp65 protein increased,while the expression of Bax,caspase-3 protein decreased,with statistical significance(P<0.05).Compared with the model group,the knee pain threshold increased in the drug group and the needle knife group,the circumference of the knee joint decreased,the ultrasonic score and pathological score of synovial tissue were significantly decreased;the apoptosis rate of FLS increased,the expression of TNF-α,IL-1β and IL-6 in synovial tissue decreased,the expressions of NF-κBp65,Bcl-2 mRNA and protein,and p-NF-κBp65 protein decreased,and the expression of Bax and caspase-3 protein increased,with statistical significance(P<0.05).Conclusion Needle-knife tendon-sparing and knot-dissolving technique may promote FLS apoptosis and reduce TNF-α,IL-1β and IL-6 production,inhibit synovial inflammation in RA,reduce knee joint swelling,and raise pain threshold by reducing the activity of synovial tissue NF-κB/Bcl-2 pathway.
8.Expression and clinical significance of disulfidptosis-related LncRNA in gastric cancer
Yudan CHU ; Haidong SUN ; Ran CUI ; Hong ZHENG
Journal of Surgery Concepts & Practice 2024;29(5):414-425
Objective To construct prognostic model of disulfidptosis-related LncRNA (DRLncs) and explore the mechanism of LncRNA-small nucleolar RNA host genes(SNHG4) in promoting the progression of gastric cancer. Methods The multi-omics features of disulfidptosis genes in gastric cancer were first analyzed based on The Cancer Genome Atlas(TCGA) database. DRLncs were further screened, and disulfidptosis related gene recurrence score (DRG-RS) model was constructed to predict the overall survival(OS) and correlation with the clinical characteristics of gastric cancer patients. Differential gene analysis, functional enrichment and the correlation between chemotherapy efficacy in high- and low-risk groups were analyzed. Cell-counting kit-8 (CCK-8) assay and migration assay confirmed that LncRNA-SNHG4 promoted the malignant phenotype of gastric cancer cells. Western Blotting assay was used to detect the signaling pathway regulated by LncRNA-SNHG4. Results DRG-RS model including 8 DRLncs was successfully constructed, showing good performance in predicting OS of the patients with gastric cancer. DRG-RS model was significantly correlated with tumor-related signaling pathways, clinical characteristics and drug sensitivity of gastric cancer patients. LncRNA-SNHG4 expression was significantly increased in gastric cancer. LncRNA-SNHG4 promoted the proliferation and migration of gastric cancer cells. LncRNA-SNHG4 promoted the activation of Wnt signaling pathway in gastric cancer cells. Conclusions The DRG-RS model constructed in our study can stratify the prognosis of gastric cancer, and is closely related to malignant characteristics and chemotherapy efficacy of gastric cancer patients. The expression of LncRNA-SNHG4 significantly increased in gastric cancer tissues, and LncRNA-SNHG4 promoted the malignant phenotype of gastric cancer cells through the Wnt signaling pathway, suggesting that LncRNA-SNHG4 may play an important role in the progression of gastric cancer.
9.Myofibrillar myopathies caused by a de novo heterozygous mutation in MYOT gene: a family report and literature review
Cong HU ; Xianzhao ZHENG ; Qianqian QU ; Xiaoli MA ; Wenhao CUI ; Yaguang ZHOU ; Jiaxuan WANG ; Haidong LYU
Chinese Journal of Neuromedicine 2024;23(12):1234-1241
Objective:To investigate the clinical phenotypes, muscle magnetic resonance imaging (MRI) and pathological changes, and genetic characteristics of myfibrillar myopathies (MFMs) cuased by MYOT gene mutation. Methods:(1) The clinical data of a MFMs family caused by a de novo frameshift mutation in MYOT gene admitted to Department of Neurology, Jiaozuo People's Hospital Affiliated to Xinxiang Medical University in February 2021 were collected. Electromyography, muscle MRI, and pathological examination were used to confirm the changes of the muscle lesions. MYOT gene mutation in the proband and other patients was detected by next generation sequencing (NGS) and Sanger sequencing, respectively. The 3D structure models of myotilin protein before and after gene mutation were predicted by AlphaFold3 and pymol3. (2) Literature on MFMs caused by MYOT gene mutation was searched from Pubmed and China National Knowledge Infrastructure from the establishment of these databases to July 2024; clinical and genetic characteristics of MFMs caused by MYOT gene mutation were summarized. Results:(1) In the 9 patients from this family, 8 had onset in adolescence (16-20 years old). Unilateral or bilateral hand muscle weakness as the first symptoms appeared in most patients, and then, hand muscle atrophy gradually appeared and slowly progressed to the proximal limbs. Electromyography showed myogenic damage. Muscle MRI showed patchy long T1 and long T2 signal intensity in the bilateral anterior tibial muscles. Muscle pathological staining showed typical rimbed vacuoles, cytoplasm, smear-like muscle fibers and desmin abnormal deposition in some muscle fibers; electron microscopy revealed disorganized myofibril structures, focal myofibril lysis, Z-band streaming, and subsarcolemmal or myofibril mitochondrial accumulation. Heterozygous mutation in MYOT gene c.680_683del (p.Val227GlufsTer10) locus was noted in 8 patients and daughter of the proband. Bioinformatics analysis suggested that MYOT gene c.680_683del mutation could cause premature termination of myotilin translation, leading to the production of a truncated protein, thereby disrupting its normal structure and function. (2) Eighty-nine patients with MFMs caused by MYOT gene mutation in previous literature mainly manifested as chronic progressive weakness of the distal or proximal limbs, with some involving the myocardium, respiratory muscles, or peripheral nerves. A total of 12 MYOT gene mutations were identified, with p. Ser60phe being the most common mutation. Except for p.Tyr4_his9del, being an in-frame mutation, the others were missense mutations. Conclusion:MFMs caused by MYOT gene mutation exhibit obvious clinical heterogeneity, characterized by very slow progression of muscle weakness; MYOT gene locus c.680_683del (p.Val227GlufsTer10) is a de novo heterozygous mutation.
10.Myofibrillar myopathies caused by a de novo heterozygous mutation in MYOT gene: a family report and literature review
Cong HU ; Xianzhao ZHENG ; Qianqian QU ; Xiaoli MA ; Wenhao CUI ; Yaguang ZHOU ; Jiaxuan WANG ; Haidong LYU
Chinese Journal of Neuromedicine 2024;23(12):1234-1241
Objective:To investigate the clinical phenotypes, muscle magnetic resonance imaging (MRI) and pathological changes, and genetic characteristics of myfibrillar myopathies (MFMs) cuased by MYOT gene mutation. Methods:(1) The clinical data of a MFMs family caused by a de novo frameshift mutation in MYOT gene admitted to Department of Neurology, Jiaozuo People's Hospital Affiliated to Xinxiang Medical University in February 2021 were collected. Electromyography, muscle MRI, and pathological examination were used to confirm the changes of the muscle lesions. MYOT gene mutation in the proband and other patients was detected by next generation sequencing (NGS) and Sanger sequencing, respectively. The 3D structure models of myotilin protein before and after gene mutation were predicted by AlphaFold3 and pymol3. (2) Literature on MFMs caused by MYOT gene mutation was searched from Pubmed and China National Knowledge Infrastructure from the establishment of these databases to July 2024; clinical and genetic characteristics of MFMs caused by MYOT gene mutation were summarized. Results:(1) In the 9 patients from this family, 8 had onset in adolescence (16-20 years old). Unilateral or bilateral hand muscle weakness as the first symptoms appeared in most patients, and then, hand muscle atrophy gradually appeared and slowly progressed to the proximal limbs. Electromyography showed myogenic damage. Muscle MRI showed patchy long T1 and long T2 signal intensity in the bilateral anterior tibial muscles. Muscle pathological staining showed typical rimbed vacuoles, cytoplasm, smear-like muscle fibers and desmin abnormal deposition in some muscle fibers; electron microscopy revealed disorganized myofibril structures, focal myofibril lysis, Z-band streaming, and subsarcolemmal or myofibril mitochondrial accumulation. Heterozygous mutation in MYOT gene c.680_683del (p.Val227GlufsTer10) locus was noted in 8 patients and daughter of the proband. Bioinformatics analysis suggested that MYOT gene c.680_683del mutation could cause premature termination of myotilin translation, leading to the production of a truncated protein, thereby disrupting its normal structure and function. (2) Eighty-nine patients with MFMs caused by MYOT gene mutation in previous literature mainly manifested as chronic progressive weakness of the distal or proximal limbs, with some involving the myocardium, respiratory muscles, or peripheral nerves. A total of 12 MYOT gene mutations were identified, with p. Ser60phe being the most common mutation. Except for p.Tyr4_his9del, being an in-frame mutation, the others were missense mutations. Conclusion:MFMs caused by MYOT gene mutation exhibit obvious clinical heterogeneity, characterized by very slow progression of muscle weakness; MYOT gene locus c.680_683del (p.Val227GlufsTer10) is a de novo heterozygous mutation.

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