Variants
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Myopathy, distal, 6, adult-onset, autosomal dominant

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Description

Autosomal dominant adult-onset distal myopathy-6 (MPD6) is a muscle disorder characterized by slowly progressive distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles (summary by Savarese et al., 2019)

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

3

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Genes

External Links

  • OMIM

    618655

  • Orphanet
  • HPO
  • Medgen

    C5203349

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