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Metadata
ID DOID:0110640
Name congenital muscular dystrophy due to LMNA mutation
Definition A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/15148145, https://www.ncbi.nlm.nih.gov/pubmed/18551513
Xrefs

ICD10CM:G71.2

OMIM:613205

ORDO:157973

Synonyms

congenital muscular dystrophy LMNA-related [EXACT]

L-CMD [EXACT]

LMNA-related congenital muscular dystrophy [EXACT]

Parent Relationships

is_a congenital muscular dystrophy

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