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FLASH GENE

Symbol

DYSF

contributors: mct/npt/pgu - updated : 23-02-2016

HGNC name	dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
HGNC id	3097

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DMAT , LGMD2B , MMD1

related resource

Limb-Girdle Muscular Dystrophy ,type 2B

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   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