Literature DB >> 14743649

Congenital myopathies/dystrophies.

Jack E Riggs1, John B Bodensteiner, Sydney S Schochet.   

Abstract

The congenital myopathies and congenital muscular dystrophies are a group of relatively infrequent neuromuscular disorders. Ultimate understanding of these disorders, however, will undoubtedly shed considerable light on skeletal muscle development and function. Three classical congenital myopathies are central core disease, nemaline myopathy, and centronuclear myopathy. The congenital muscular dystrophies are often distinguished by whether or not they are associated with clinically evident cerebral involvement.

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Year:  2003        PMID: 14743649     DOI: 10.1016/s0733-8619(03)00013-6

Source DB:  PubMed          Journal:  Neurol Clin        ISSN: 0733-8619            Impact factor:   3.806


  1 in total

1.  X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.

Authors:  Ji Hyun Jeon; Ran Namgung; Min Soo Park; Kook In Park; Chul Lee; Jin Sung Lee; Se Hoon Kim
Journal:  Yonsei Med J       Date:  2011-05       Impact factor: 2.759

  1 in total

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