Term Name: congenital myopathy 4B
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.
Ontology: Human Disease [DOID:0110926]   ( DOID:0110926 )

Relationships
is a type of: autosomal recessive disease congenital myopathy
disjoint_from: nemaline myopathy 3