congenital muscular dystrophy due to LMNA mutation
Information
- Disease name
- congenital muscular dystrophy due to LMNA mutation
- Disease ID
- DOID:0110640
- Description
- "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15148145, url:https\://www.ncbi.nlm.nih.gov/pubmed/18551513]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050557
- Cross Reference ID (Disease Ontology)
- ICD10CM:G71.2
- Cross Reference ID (Disease Ontology)
- MIM:613205
- Cross Reference ID (Disease Ontology)
- ORDO:157973
- Exact Synonym (Disease Ontology)
- congenital muscular dystrophy LMNA-related
- Exact Synonym (Disease Ontology)
- L-CMD
- Exact Synonym (Disease Ontology)
- LMNA-related congenital muscular dystrophy
- OrphaNumber from OrphaNet (Orphanet)
- 157973