FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term nemaline myopathy 1 ID (Ontology) DOID:0110926 (Human Disease)
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.
Also Known As "autosomal recessive congenital myopathy 4B" ; "congenital myopathy 4B" ; "NEM1" (for all, see Synonyms field below)
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 Genes
 nemaline myopathy 1       2
 for disease ribbon | nemaline myopathy 1       2
 model of | nemaline myopathy 1       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
congenital myopathy              |
 |__nemaline myopathy____________|
                                 nemaline myopathy 1  2 rec.
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Is a autosomal recessive disease
nemaline myopathy
Part of
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Synonyms
  • "autosomal recessive congenital myopathy 4B" EXACT
    "congenital myopathy 4B" EXACT
    "NEM1" EXACT OMO:0003012
    "nemaline myopathy 1, autosomal dominant or recessive" EXACT
Secondary IDs
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MESH:C538348
MIM:609284