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Metadata
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

ICD10CM:G71.0

OMIM:611588

ORDO:206554

Subsets

DO_rare_slim

Synonyms

LGMD2M [EXACT]

MDDGC4 [EXACT]

muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4 [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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