Autosomal Dominant Centronuclear Myopathy with Unique Clinical Presentations.
10.3346/jkms.2007.22.6.1098
- Author:
Jee Young LEE
1
;
Ju Hong MIN
;
Yoon Ho HONG
;
Jung Joon SUNG
;
Sung Hye PARK
;
Seong Ho PARK
;
Kwang Woo LEE
;
Kyung Seok PARK
Author Information
1. Department of Neurology, Seoul National University College of Medicine, Seoul, Korea. pks1126@chol.com
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Myopathies, Structural, Congenital;
Autosomal Dominant Inheritance;
Distal Myopathies
- MeSH:
Adolescent;
Female;
*Genes, Dominant;
Humans;
Middle Aged;
Muscle, Skeletal/pathology;
Myopathies, Structural, Congenital/*genetics/*pathology
- From:Journal of Korean Medical Science
2007;22(6):1098-1101
- CountryRepublic of Korea
- Language:English
-
Abstract:
Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear myopathy with unusual clinical features that had initially suggested distal myopathy. Clinically, the patients presented with muscle weakness and atrophy localized mainly to the posterior compartment of the distal lower extremities. Magnetic resonance imaging revealed predominant atrophy and fatty changes of bilateral gastrocnemius and soleus muscles. This report demonstrates the expanding clinical heterogeneity of autosomal dominant centronuclear myopathy.
