Metadata | |
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ID | DOID:0110296 |
Name | autosomal recessive limb-girdle muscular dystrophy type 2M |
Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/17044012 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
LGMD2M [EXACT] MDDGC4 [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 [EXACT] |
Parent Relationships |