Variants
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MYH7-related skeletal myopathy

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Description

Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

178

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Genes

External Links

  • OMIM

    160500

  • Orphanet

    59135

  • HPO
  • Medgen

    C4552004

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