1.A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
Dong Wook NAMGUNG ; Ji Man HONG ; Jung Hwan LEE ; Hyung Jun PARK ; Young Chul CHOI
Journal of the Korean Neurological Association 2019;37(2):174-177
Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.
Extremities
;
Humans
;
Muscle Weakness
;
Muscular Diseases
;
Mutation, Missense
;
Myopathies, Nemaline
;
Myopathies, Structural, Congenital
;
Respiratory Insufficiency
;
Ryanodine Receptor Calcium Release Channel
;
Tropomyosin
3.A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy.
Seul Ki JEONG ; Dong Chan KIM ; Yong Gon CHO ; Il Nam SUNWO ; Dal Sik KIM
Journal of Clinical Neurology 2008;4(3):123-130
BACKGROUND AND PURPOSE: At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying multiminicore myopathy in an MH and/or CCD family have been reported only rarely. METHODS: Fifty-three members of a large MH family were investigated with clinical, histopathologic, RYR1 mutation, and haplotyping studies. Blood creatine kinase (CK) and myoglobin levels were also measured where possible. RESULTS: Sequencing of the entire RYR1 coding region identified a double RYR1 mutation (R2435H and A4295V) in MH/CCD regions 2 and 3. Haplotyping analysis revealed that the two missense heterozygous mutations (c.7304G>A and c.12891C>T) were always present on a common haplotype allele, and were closely cosegregated with histological multiminicores and elevated serum CK. All the subjects with the double mutation showed elevated serum CK and myoglobin, and the obtained muscle biopsy samples showed multiminicore lesions, but only two family members presented a late-onset, slowly progressive myopathy. CONCLUSIONS: We found multiminicore myopathy with clinical and histological variability in a large MH family with an unusual double RYR1 mutation, including a typical CCD-causing known mutant. These results suggest that multiminicore lesions are associated with the presence of more than two mutations in the RYR1 gene.
Alleles
;
Biopsy
;
Clinical Coding
;
Creatine Kinase
;
Haplotypes
;
Humans
;
Malignant Hyperthermia
;
Muscles
;
Muscular Diseases
;
Myoglobin
;
Myopathies, Structural, Congenital
;
Myopathy, Central Core
;
Ophthalmoplegia
;
Ryanodine
;
Ryanodine Receptor Calcium Release Channel
4.Case of myofibril myopathy.
Lili CHEN ; Fangming LIU ; Jiangtao FU
Chinese Acupuncture & Moxibustion 2015;35(12):1304-1304
5.Tubular Aggregate Myopathy: A Case Report.
Journal of Korean Medical Science 2003;18(1):135-140
We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori's trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers. We briefly review the pathologic findings of the previously reported cases of tubular aggregate myopathy and discuss the possible pathogenesis of this disease. We briefly discuss the possible pathogenesis of sarcoplasmic reticulum and review the ultrastructural characteristics.
Adult
;
Biopsy
;
Frozen Sections
;
Genes, Dominant
;
Genes, Recessive
;
Human
;
Korea
;
Male
;
Microscopy, Electron
;
Microtubules/ultrastructure
;
Mitochondria, Muscle/ultrastructure
;
Muscle, Skeletal/pathology*
;
Myopathies, Structural, Congenital/diagnosis
;
Myopathies, Structural, Congenital/genetics
;
Myopathies, Structural, Congenital/pathology*
;
Pedigree
6.A Case of Centronuclear Myopathy.
Yun Hee KIM ; Young Se KWON ; Dae Hyun LIM ; Yong Hun JUN ; Soon Ki KIM ; Young Jin HONG ; Byong Kwan SON ; Hae Seung HAN
Journal of the Korean Pediatric Society 2002;45(9):1170-1174
Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It is believed to arise as a result of maturational arrest with persistence of microtubes postnatally. We report a boy with generalized hypotonia and muscle weakness who was diagnosed as centrinuclear myopathy by muscle biopsy.
Biopsy
;
Humans
;
Male
;
Muscle Cells
;
Muscle Hypotonia
;
Muscle Weakness
;
Muscular Diseases
;
Myopathies, Structural, Congenital*
7.Congenital myopathy with type 1 fiber predominance in two children.
Meng-Chuan LUO ; Qiu-Xiang LI ; Wei-Fan YIN ; Wei-Wei DUAN ; Fang-Fang BI ; Ning ZHANG ; Jing-Hui LIANG ; Huan YANG
Chinese Journal of Contemporary Pediatrics 2011;13(6):499-502
Non-progressive congenital myopathy is a group of muscle diseases occurring at birth or during teenage years. A number of new reports of congenital myopathy, such as homogeneous bodies myopathy, muscle quality control myopathy and type 1 fiber predominance have recently been reported, but they lack of sufficient quantity and constant clinico-pathologic manifestations. This paper reports two cases of congenital myopathy with type 1 fiber predominance confirmed by muscle biopsy. The clinical manifestations of the two children (a 4.5-year-old girl and an 11-year-old boy) included non-progressive symptoms of muscle weakness, skeletal deformities and other clinical features of congenital myopathy. The physical examinations showed a long face or figure and funnel chest or kyphosis/scoliosis, high palatal arch and wing-like shoulder. Serum levels of creatine kinase were normal but slightly elevated serum lactate dehydrogenase levels were noted in the two children. The skeletal muscle biopsy by ATPase staining showed that type 1 fibers accounted for more than 90% of the total number of muscle fibers. No other abnormal pathological changes, such as central cores, muscle tube and central nuclei, were found in the two children.
Diagnosis, Differential
;
Female
;
Humans
;
Infant
;
Male
;
Muscle, Skeletal
;
pathology
;
Myopathies, Structural, Congenital
;
diagnosis
;
pathology
;
therapy
8.Report of a case with central nuclear type myopathy.
Jian-zhong BI ; Shun-liang XU ; Lin SUN ; Qingbo ZHOU ; Wei SHANG ; Xiaoyun WANG
Chinese Journal of Pediatrics 2004;42(5):398-398
9.A Case of Centronuclear Myopathy.
Hyun Kyung KIM ; Wi Sun RYU ; Yoon Ho HONG ; Jung Joon SUNG ; Kyung Seok PARK ; Seong Ho PARK ; Kwang Woo LEE
Journal of the Korean Neurological Association 2006;24(5):491-494
Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern: the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy.
Humans
;
Inheritance Patterns
;
Muscle Weakness
;
Muscular Diseases
;
Myopathies, Structural, Congenital*
;
Pathology
10.Congenital Fiber Type Disproportion Myopathy: A case report .
Sung Hye PARK ; Kwang Kuk KIM ; Suk Yoon KANG ; Shin Kwang KANG
Korean Journal of Pathology 1999;33(4):303-306
Authors report a typical case of congenital fiber type disproportion (CFTD) with unique clinicopathologic characteristics. The patient was a 13-year-old boy who presented with weakness of lower extremities, especially proximal muscle, since his infancy. He has suffered from severe scoliosis which got worse since the age of 12. He showed mild dysarthria, high arched palate, and fish face. All routine laboratory data were within normal limits. EMG findings suggested myopathy. The muscle biopsy revealed fiber type disproportion with type 1 predominance. While most of the type 1 myofibers were atrophic or normal in size, the type 2 fibers showed universal hypertrophy. The difference of mean diameter between the larger and the smaller fibers was 27.9%. The patient's clinicopathologic settings fulfilled the criteria of CFTD.
Adolescent
;
Biopsy
;
Dysarthria
;
Humans
;
Hypertrophy
;
Lower Extremity
;
Male
;
Muscular Diseases*
;
Myopathies, Structural, Congenital*
;
Palate
;
Scoliosis