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congenital muscular dystrophy due to LMNA mutation
Summary
- Synonym
-
- L-CMD
- LMNA-related congenital muscular dystrophy
- congenital muscular dystrophy LMNA-related
- Definition
- A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
- Super Class
- autosomal dominant disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0110640
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
