A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype
Titel:
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype
Auteur:
Bednarz, Marcin Stunnenberg, Bas C. Kusters, Benno Kamsteeg, Erik-Jan Saris, Christiaan G. Groome, James Winston, Vern Meola, Giovanni Jurkat-Rott, Karin Voermans, Nicol C.