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Metadata
ID DOID:0110298
Name autosomal recessive limb-girdle muscular dystrophy type 2N
Definition An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
https://www.ncbi.nlm.nih.gov/pubmed/17878207
Xrefs

ICD10CM:G71.0

MIM:613158

ORDO:206559

Subsets

DO_rare_slim

Synonyms

LGMD2N [EXACT]

muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 [EXACT]

muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related [EXACT]

Parent Relationships

is_a autosomal recessive limb-girdle muscular dystrophy

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