J Korean Child Neurol Soc.  2001 Oct;9(2):425-429.

Familial Myotubular Myopathy Occurred in a Sibling

Affiliations
  • 1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.

Abstract

Myotubular or centronuclear myopathy(MTM) is a rare congenital myopathy, which is characterized by predominance and atrophy of type 1 fibers and centrally located nuclei in muscle pathology. The clinical features and severity are quite variable. MTM is classified as three forms according to the inheritance pattern : autosomal dominant, autosomal recessive and X-linked recessive. The authors present familial myotubular myopathy, suggestive of X linked, occurred in a sibling with intrafamilial clinical variability.

Keyword

Myotubular myopathy; X-linked; Centronuclear myopathy

MeSH Terms

Atrophy
Humans
Inheritance Patterns
Muscular Diseases
Myopathies, Structural, Congenital*
Pathology
Siblings*
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