Conditions / Genetic
tubular aggregate myopathy 2
info · Genetic
A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.
Signs and symptoms
- Miosis
- Hypocalcemia
- Ankle flexion contracture
- Muscle weakness
- Spinal rigidity
- Elevated circulating creatine kinase activity
- Generalized muscle weakness
- Foot dorsiflexor weakness
- Falls
- Proximal muscle weakness