A case of congenital neuromuscular disease with uniform type 1 fiber

Sang Jun Na, Seong Woong Kang, Kee Oog Lee, Kyung Yul Lee, Tai Seung Kim, Young Chul Choi

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)150-152
Number of pages3
JournalYonsei medical journal
Volume45
Issue number1
DOIs
Publication statusPublished - 2004 Feb 29

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this