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References OMIM Gene GeneReviews HGMD HGNC
last update : 29/10/2008
Symbol LGMD2M
Location 9q31.2
Name limb girdle muscular dystrophy 2M
Corresponding gene FKTN
Main clinical features
  • hypotonia and muscle weakness in infancy between ages 4 and 10 months, severe acute motor deterioration after febrile viral illnesses, mainly proximal muscle weakness with delayed motor development, decreased endurance, frequent falls, proximal muscle weakness, hypertrophy of lower limb muscles, and increased serum creatine kinase
  • skeletal muscle biopsies showed virtually absent glycosylation of alpha-dystroglycan and dystrophic features with mild macrophage infiltration
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease