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Autosomal recessive limb-girdle muscular dystrophy type 2X

Disease definition

A rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.

ORPHA:476084

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
    • LGMD2X
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: -
  • OMIM: 616812
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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