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DYSF - dysferlin
- Synonym(s) : FER1L1, fer-1-like family member 1
- Previous symbols and names : LGMD2B, limb girdle muscular dystrophy 2B (autosomal recessive)
- Type : gene with protein product
- Chromosomal location : 2p13.2
- OMIM: 603009
- HGNC: 3097
- UniProtKB: O75923
- Genatlas: DYSF
- Ensembl: ENSG00000135636
- IUPHAR-DB: -
- Reactome: O75923
- LOVD: DYSF
Diseases list
- Disease-causing germline mutation(s) in Congenital myopathy, Paradas type
ORPHA:199329 
- Disease-causing germline mutation(s) in Distal myopathy with anterior tibial onset
ORPHA:178400 - Disease-causing germline mutation(s) in Dysferlin-related limb-girdle muscular dystrophy R2
ORPHA:268 - Disease-causing germline mutation(s) in Miyoshi myopathy
ORPHA:45448
: AssessedAdditional information
Health care resources for this gene
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Specialised Social Services
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