Conditions / Genetic
infantile-onset myofibrillar myopathy-2B
info · Genetic
A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Respiratory insufficiency
- Hypertonia
- Rigidity
- Muscular dystrophy
- Respiratory failure
- Weak cry
- Apnea
Also known as: MFM2B; fatal infantile hypertonic myofibrillar myopathy