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.
Department of Neurology, Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Sang-Jun
SJ
Na
Seong-Woong
SW
Kang
Kee-Oog
KO
Lee
Kyung-Yul
KY
Lee
Tai-Seung
TS
Kim
Young-Chul
YC
Choi
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*