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Progressive scapulohumeroperoneal distal myopathy

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Description

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

7

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Genes

External Links

  • OMIM

    616852

  • Orphanet

    447977

  • HPO
  • Medgen

    C4225181

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