Term Name: | congenital muscular dystrophy due to LMNA mutation |
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Synonyms: | congenital muscular dystrophy LMNA-related, L-CMD, LMNA-related congenital muscular dystrophy |
Definition: | A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. |
Ontology: | Human Disease [DOID:0110640] ( DOID:0110640 ) |