| 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/18551513, https://www.ncbi.nlm.nih.gov/pubmed/15148145 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital muscular dystrophy LMNA-related [EXACT] L-CMD [EXACT] LMNA-related congenital muscular dystrophy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |