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Metadata
ID DOID:0110299
Name autosomal recessive limb-girdle muscular dystrophy type 2I
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
https://www.ncbi.nlm.nih.gov/pubmed/11592034
Xrefs

ICD10CM:G71.0

OMIM:607155

ORDO:34515

Synonyms

LGMD2I [EXACT]

Limb-girdle muscular dystrophy due to FKRP deficiency [EXACT]

MDDGC5 [EXACT]

muscular dystrophy limb-girdle type 2I [EXACT]

muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 [EXACT]

muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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