Congenital Muscular Dystrophy. |
E Sook Oh1, Sung Won Park1, Chong Koo Yun1, Sang Hyup Kim1, Chung Bin Lee2, E.K Ham2 |
1Dept, of pediatrics,College of Medicine,Seoul National University 2Dept, of Pathology,College of Medicine, Seoul National University |
先天性 筋異榮養症(Congenital Muscular Dystrophy) |
吳義被1, 朴聖緩1, 尹鍾求1, 金相協1, 이정빈2, 함의근2 |
1서울大學校 醫科大學 小兒科學敎室 2서울大學校 醫科大學 病理學敎室 |
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Abstract |
We described the case of a 7 year and 10 month old child with congenital muscular hypotonia
and weakness which was noticed for the first time at 1 month of age.
A muscle biopsy revealed changes similar in appearance to those of progressive muscular
dystrophy and alterations in serum enzyme activity were consistent with a dystrophic process.
It is concluded that this patient is suffering from the rare condition of congenital muscular
dystrophy.
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