congenital myopathy 4B

info · Genetic

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.

Signs and symptoms

Narrow face
Generalized muscle weakness
Dysphagia
Scoliosis
Pes cavus
Long face
Flexion contracture
Motor delay
Respiratory insufficiency
Distal lower limb muscle weakness

Also known as: NEM1; autosomal recessive congenital myopathy 4B; nemaline myopathy 1; nemaline myopathy 1, autosomal dominant or recessive