Distal myopathies.

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  • Source:
    European Journal of Neurology. Oct2002 Supplement S2, Vol. 9, p3-4. 2p.
  • Additional Information
    • Subject Terms:
      MUSCLE diseases; NEMALINE myopathy; NEUROMUSCULAR diseases; SPINAL muscular atrophy; HUMAN genetics; AMINO acid residues
    • Abstract:
      At present, it is known that mutations in the dysferlin gene cause the Miyoshi myopathy phenotype of DM as well as another identified phenotype, the DAT (distal anterior phenotype) and a proximal phenotype of muscular dystrophy (LGMD2B). Further, Nonaka myopathy previously linked to chromosome 9p1-q1 is now known to be caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE), as in autosomal recessive inclusion body myopathy (IBM2). Immunohistochemical analysis using the M-line titin antibody M8/9 showed loss of epitope recognition in TMD muscle samples, further emphasizing the functional defect caused by the mutation and in agreement with the previous results of secondary calpain3 defect in TMD. [Extracted from the article]
    • Abstract:
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