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Disease Ontology Browser
autosomal dominant limb-girdle muscular dystrophy type 1A (DOID:0110300)
Synonyms: LGMD1A; limb-girdle muscular dystrophy due to myotilin deficiency; muscular dystrophy limb-girdle type 1A; proximal muscular dystrophy type 1A
Alt IDs: OMIM:159000, ICD10CM:G71.0, ORDO:266
Definition: An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory