congenital myopathy 4B

Term ID

DOID:0110926

Synonyms

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

Definition

A congenital myopathy that is characterized by the onset of muscle weakness in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3) on chromosome 1q21. (3)

References

• MESH:C538348
• MIM:609284

Ontology

Human Disease   ( DOID:0110926 )