Autosomal dominant centronuclear myopathy with unique clinical presentations.
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.
Lee
Jee Young
JY
Department of Neurology, Seoul National University College of Medicine, Seoul, Korea.
Min
Ju Hong
JH
Hong
Yoon Ho
YH
Sung
Jung Joon
JJ
Park
Sung Hye
SH
Park
Seong Ho
SH
Lee
Kwang Woo
KW
Park
Kyung Seok
KS
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*