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References OMIM Gene GeneReviews HGMD HGNC
last update : 2/06/2006
Symbol LGMD1A
Location 5q31.2
HGNC id 6574
Name limb girdle muscular dystrophy type 1A
Other name(s) muscular dystrophy, proximal, type 1A
Corresponding gene MYOT
Other symbol(s) LGMD1
Main clinical features
  • characterized by progressive proximal weakness with/without proximal arm weakness, absentankle deep-tendon reflexes and elevated creatine-kinase values, with evidence for anticipation
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name myotilin (TTID)