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FLASH GENE
Symbol DYSF contributors: mct/npt/pgu - updated : 23-02-2013
HGNC name dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
HGNC id 3097
ASSOCIATED DISORDERS
corresponding disease(s) DMAT , LGMD2B , MMD1
related resource Limb-Girdle Muscular Dystrophy ,type 2B
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neuromuscularmyopathy 
enhancement of the neutrophil response is a potential therapeutic avenue in the dysferlinopathies
ANIMAL & CELL MODELS
  • deleted in SJL mice
  • overexpression of dysferlin in mice resulted in a striking phenotype of kyphosis, irregular gait, and reduced muscle mass and strength