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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/10619715, https://www.ncbi.nlm.nih.gov/pubmed/24095155, https://www.ncbi.nlm.nih.gov/pubmed/7704029
Xrefs

OMIM:609284

Synonyms

NEM1 [EXACT]

nemaline myopathy 1, autosomal dominant or recessive [EXACT]

Parent Relationships

is_a nemaline myopathy

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