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Metadata
ID DOID:0110279
Name autosomal recessive limb-girdle muscular dystrophy type 2E
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.
https://www.ncbi.nlm.nih.gov/pubmed/7581448
Xrefs

ICD10CM:G71.0

OMIM:604286

ORDO:119

Subsets

DO_rare_slim

Synonyms

Beta-sarcoglycanopathy [EXACT]

LGMD2E [EXACT]

Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency [EXACT]

muscular dystrophy, limb-girdle, type 2E [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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