title: Autosomal dominant centronuclear myopathy with unique clinical presentations.
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.
authors.affiliation: Department of Neurology, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jee Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Ju Hong
authors.initials: JH
authors.lastname: Min
authors.forename: Yoon Ho
authors.initials: YH
authors.lastname: Hong
authors.forename: Jung Joon
authors.initials: JJ
authors.lastname: Sung
authors.forename: Sung Hye
authors.initials: SH
authors.lastname: Park
authors.forename: Seong Ho
authors.initials: SH
authors.lastname: Park
authors.forename: Kwang Woo
authors.initials: KW
authors.lastname: Lee
authors.forename: Kyung Seok
authors.initials: KS
authors.lastname: Park
mesh_terms: D000293:Adolescent; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*