The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐
function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene …

PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2
(DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …

Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare
genetic disorders caused by mutations in genes encoding ion channel subunits in the …

Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with
muscle weakness, atrophy, and myotonia but also prominent multisystem involvement …

In 1970, the study of the pathomechanisms underlying myotonia in muscle fibers isolated
from myotonic goats highlighted the importance of chloride conductance for skeletal muscle …

Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic
and phenotypic variability. These disorders cause lifetime disability and impact quality of life …

Purpose of review This article aims to review the current and upcoming treatment options of
primary muscle channelopathies including the non-dystrophic myotonias and periodic …

Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM),
periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital …

Introduction Non-dystrophic myotonias (NDM) are heterogeneous diseases caused by
mutations in CLCN1 and SCN4A. The study aimed to describe the clinical and genetic …

This is the second part of a two-part document intended to discuss recent therapeutic
progresses in genetic neuromuscular disorders. The present review is for diseases of motor …