Variants
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Autosomal recessive limb-girdle muscular dystrophy type 2J

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Description

A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

8,237

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Genes

External Links

  • OMIM

    608807

  • Orphanet

    140922

  • HPO
  • Medgen

    C1837342

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