Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992). [from OMIM]
- MedGen UID:
- 113142
- •Concept ID:
- C0221055
- •
- Disease or Syndrome
- GTR
- ClinVar
- Genes
- OMIM
- GeneReviews