A case of congenital neuromuscular disease with uniform type 1 fiber.
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.
Na
Sang-Jun
SJ
Department of Neurology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Kang
Seong-Woong
SW
Lee
Kee-Oog
KO
Lee
Kyung-Yul
KY
Kim
Tai-Seung
TS
Choi
Young-Chul
YC
D001706:Biopsy; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology*; D005260:Female; D006801:Humans; D018657:Muscle Fibers, Slow-Twitch / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000151:congenital / Q000473:pathology*