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MYOT - myotilin
- Synonym(s) :
- Previous symbols and names : LGMD1, LGMD1A, TTID, limb-girdle muscular dystrophy 1A (autosomal dominant), titin immunoglobulin domain protein (myotilin)
- Type : gene with protein product
- Chromosomal location : 5q31.2
- OMIM: 604103
- HGNC: 12399
- UniProtKB: Q9UBF9
- Genatlas: MYOT
- Ensembl: ENSG00000120729
- IUPHAR-DB: -
- Reactome: Q9UBF9
- LOVD: MYOT
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant limb-girdle muscular dystrophy type 1A
ORPHA:266 
- Disease-causing germline mutation(s) in Distal myotilinopathy
ORPHA:98911 - Disease-causing germline mutation(s) in Spheroid body myopathy
ORPHA:268129
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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