Ullrich congenital muscular dystrophy 1A
Information
- Disease name
- Ullrich congenital muscular dystrophy 1A
- Disease ID
- DOID:0060946
- Description
- "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22." [url:https\://pubmed.ncbi.nlm.nih.gov/23622361/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes | Mutation | Description | Source | Links |
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- Disase is a (Disease Ontology)
- DOID:0050558
- Cross Reference ID (Disease Ontology)
- MIM:254090