Nondystrophin muscular dystrophy

Research output: Contribution to journalShort surveypeer-review

Abstract

The nosology of the muscular dystrophies has changed considerably in the last decade since the discovery of the dystrophin gene. This review discusses the common nondystrophin muscular dystrophies of childhood. Limb girdle muscular dystrophy (LGMD) is currently classified according to the inheritance pattern: autosomal dominant (LGMD1), autosomal recessive (LGMD2), as well as X-linked. Several of the LGMD2s are called sarcoglycanopathies for the protein abnormalities seen in muscle tissue. Congenital muscular dystrophy (CMD) nosology is still in flux. Fukuyama CMD was first described in Japanese children, leading to the designation 'non-Fukuyama or occidental' CMD. Non-Fukuyama CMD is classified as merosin-negative or merosin-positive based on whether merosin deficiency can be demonstrated by immunohistologic study of muscle tissue.

Original languageEnglish (US)
Pages (from-to)94-97
Number of pages4
JournalInternational Pediatrics
Volume13
Issue number2
StatePublished - Jan 1 1998

Keywords

  • Congenital muscular dystrophy
  • Limb girdle muscular dystrophy
  • Merosin-deficiency
  • Muscle-eye-brain disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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