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GENATLAS PHENOTYPE
last update : 18-09-2012
Symbol LGMD2B
Location 2p13.2
Name limb girdle muscular dystrophy 2B
Other name(s) limb girdle muscular dystrophy 3
Corresponding gene DYSF
Other symbol(s) LGMD3
Main clinical features
  • beginning in the late second decade of life, characterized by symmetrical progressive weakness, atrophy of the proximal limb and trunk muscles, allelic to MM (see symbol)
    • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name dysferlin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function 3370G>T
    nonsense   abnormal protein/loss of function 1939C>G
    Remark(s) has significantly higher levels of dystrophic features (ie degenerating and regenerating fibres) and lower levels of chronic changes (ie lobulated fibres) compared with LGMD2A
  • muscular dystrophy with marked DYSF deficiency is consistently caused by primary dysferlin gene mutations (PMID: 21522182))