A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber
Yonsei Medical Journal
; : 150-152, 2004.
Article
em En
| WPRIM
| ID: wpr-225865
Biblioteca responsável:
WPRO
ABSTRACT
Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea.
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Índice:
WPRIM
Assunto principal:
Biópsia
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Deficiências do Desenvolvimento
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Músculo Esquelético
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Fibras Musculares de Contração Lenta
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Doenças Neuromusculares
Limite:
Child
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Female
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Humans
Idioma:
En
Revista:
Yonsei Medical Journal
Ano de publicação:
2004
Tipo de documento:
Article