nemaline myopathy 1

Term ID

DOID:0110926

Synonyms

• congenital myopathy 4B
• NEM1
• nemaline myopathy 1, autosomal dominant or recessive

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. (3)

References

• MESH:C538348
• OMIM:609284

Ontology

Human Disease   ( DOID:0110926 )