Conditions / Genetic
nemaline myopathy 5B
info · Genetic
A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Rhabdomyolysis
- Difficulty climbing stairs
- Hip contracture
- Minicore myopathy
- Spinal rigidity
- Elbow contracture
- Fatty replacement of ventricular myocardial tissue
- Delayed gross motor development
- Ankle contracture