nemaline myopathy 1
Information
- Disease name
- nemaline myopathy 1
- Disease ID
- DOID:0110926
- Description
- "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10619715, url:https\://www.ncbi.nlm.nih.gov/pubmed/24095155, url:https\://www.ncbi.nlm.nih.gov/pubmed/7704029]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3191
- Cross Reference ID (Disease Ontology)
- MESH:C538348
- Cross Reference ID (Disease Ontology)
- MIM:609284
- Exact Synonym (Disease Ontology)
- congenital myopathy 4B
- Exact Synonym (Disease Ontology)
- NEM1
- Exact Synonym (Disease Ontology)
- nemaline myopathy 1, autosomal dominant or recessive
- MedGen concept unique identifier (MedGen Concept name)
- C1836448
- MedGen unique identifier (MedGen Concept name)
- 373089