| Metadata | |
|---|---|
| ID | DOID:0110926 |
| Name | nemaline myopathy 1 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/24095155, https://www.ncbi.nlm.nih.gov/pubmed/7704029, https://www.ncbi.nlm.nih.gov/pubmed/10619715 |
| Xrefs | |
| Synonyms |
congenital myopathy 4B [EXACT] NEM1 [EXACT] nemaline myopathy 1, autosomal dominant or recessive [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a nemaline myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |