Variants
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Autosomal recessive limb-girdle muscular dystrophy type 2Q

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Description

Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

2,294

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Genes

External Links

  • OMIM

    613723

  • Orphanet

    254361

  • HPO
  • Medgen

    C3150989

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