J Korean Med Sci.  2007 Dec;22(6):1098-1101. 10.3346/jkms.2007.22.6.1098.

Autosomal Dominant Centronuclear Myopathy with Unique Clinical Presentations

• Lee JY
• Min JH
• Hong YH
• Sung JJ
• Park SH
• Park SH
• Lee KW
• Park KS

• KMID: 1785779
• DOI: http://doi.org/10.3346/jkms.2007.22.6.1098

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.

Keyword

Myopathies, Structural, Congenital; Autosomal Dominant Inheritance; Distal Myopathies

MeSH Terms

Adolescent
Female
*Genes, Dominant
Humans
Middle Aged
Muscle, Skeletal/pathology
Myopathies, Structural, Congenital/*genetics/*pathology

Figure

• 

  Fig. 1 Photograph of the patient. Note the marked atrophy in the posterior compartment of the lower legs.

• 

  Fig. 2 MR images of the lower extremities. Note the predominant atrophic and fatty changes of bilateral gastrocnemius and soleus muscles (arrowheads) on T2-weight axial (A) and coronal (B) images.

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  Fig. 3 Pathological findings of a muscle biopsy from the right tibialis anterior muscle. H&E staining shows centrally located nuclei in nearly all fibers with a marked variation in fiber size (A). NADH tetrazolium reductase staining shows type 1 fiber predominance and hypotrophy, while some fibers reveal radially arranged sarcoplasmic strands (B). Bars=200 µm.

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