paramyotonia congenita of Von Eulenburg
Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
MONDO:0016120
myotonic syndrome
is_a
MONDO:0700223
hereditary skeletal muscle disorder
is_a
MONDO:0800468
SCN4A-related channelopathy
is_a
Eulenburg disease
related
PMC
related
Von Eulenburg paramyotonia congenita
related
myotonia congenita intermittens
related
paramyotonia congenita
exact
paramyotonia congenita of Von Eulenburg
exact