1.Progressive Muscular Dystrophy.
Journal of the Korean Pediatric Society 1984;27(7):738-740
No abstract available.
Muscular Dystrophies*
2.4 Cases of Progressive Muscular Dystrophy.
Jung Hee KIM ; Dong Wook KIM ; Dae Deok AHN ; Jung Kwon LEE ; Yoon Ja KIM
Journal of the Korean Pediatric Society 1985;28(12):1225-1230
No abstract available.
Muscular Dystrophies*
3.Prediction of carrier status in Duchanne muscular dystrophy by serum enzyme measurement.
Journal of the Korean Academy of Rehabilitation Medicine 1991;15(4):423-430
No abstract available.
Muscular Dystrophies*
4.Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.
Min Wook KIM ; Dae Hyun JANG ; Jun KANG ; Seungok LEE ; Sun Young JOO ; Ja Hyun JANG ; Eun Hae CHO ; Young Chul CHOI ; Jung Hwan LEE
Annals of Laboratory Medicine 2017;37(4):359-361
No abstract available.
Humans
;
Muscular Dystrophies*
;
Siblings*
5.Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.
Min Wook KIM ; Dae Hyun JANG ; Jun KANG ; Seungok LEE ; Sun Young JOO ; Ja Hyun JANG ; Eun Hae CHO ; Young Chul CHOI ; Jung Hwan LEE
Annals of Laboratory Medicine 2017;37(4):359-361
No abstract available.
Humans
;
Muscular Dystrophies*
;
Siblings*
7.Duchenne Type Muscular Dystrophy Occuring in 2 Brothers.
Bong Soo LEE ; Jon Kerl LEE ; Chang Soo RA
Journal of the Korean Pediatric Society 1981;24(3):271-274
No abstract available.
Humans
;
Muscular Dystrophies*
;
Siblings*
8.Intellectual impairement in patients with muscular dystrophy.
Min Kyun SOHN ; Jae Ho MOON ; Dong Shik PARK ; Min Jung KANG ; Young Ran HA
Journal of the Korean Academy of Rehabilitation Medicine 1991;15(1):71-76
No abstract available.
Humans
;
Muscular Dystrophies*
9.Progressive Muscular Dystrophy: A Case Report
Jun Seop JAHNG ; Sung Kwan HWANG ; Dae Young HAN
The Journal of the Korean Orthopaedic Association 1978;13(3):445-450
Progressive Muscular Dystrophy is a hereditary disorder characterized by progressive weakness and wasting of muscules. The etiology of muscular dystrophy is unknown, and no from of pharmacological treatment is considered effective. We report 2 cases of progressive muscular dystrophy occuring in a family, which were diagnosed by clinical findings, serum enzyme study and electromyography.
Electromyography
;
Humans
;
Muscular Dystrophies
10.Mutation in the Rod domain of dystrophin gene caused Duchenne muscular dystrophy disease
Journal of Vietnamese Medicine 2005;311(6):33-39
Analysis of gene mutation at AND degree on 2 patients with Duchenne having clinical complications: muscle weakness occurred early and progressive, enlarged leg muscles, increased CK level in peripheral blood, muscle biopsy present specific image of the disease. 19 exon were the most commonly mutated on dystrophin gene were selected to implement PCR reaction. Results showed that exon 45 had partial deletion phenomenon in all two patients while exon 44 and 48 had not this model. The patients were determined as bearing consecutive partial delete mutation of three exon 45, 46, 47 on dystrophin gene. This mutation caused incorrect coding frame
Muscular Dystrophy, Duchenne
;
Muscular Dystrophies
;
Genes