Variants
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Autosomal recessive limb-girdle muscular dystrophy type 2G

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Description

A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

24

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Genes

External Links

  • OMIM

    601954

  • Orphanet

    34514

  • HPO
  • Medgen

    C1866008

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