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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-06-2021
Symbol LGMD2Z
Location 3q13.33
Name muscular dystrophy, limb-girdle,type 2Z
Other name(s) Muscular dystrophy, limb-girdle, autosomal recessive 21
Corresponding gene POGLUT1
Other symbol(s) LGMDR21
Main clinical features
  • young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy
  • onset of proximal muscle weakness affecting the lower limbs in the third decade; evolution progressive and eventually involved the upper limbs, resulting in the patients becoming wheelchair-bound and showing scapular winging; oldest patient showed impaired respiratory function in the fourth decade
  • mildly increased serum creatine kinase;skeletal muscle biopsy showed variable dystrophic and myopathic features
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease