Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A

Dear Editor, Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping. MC is mostly associated with dominant or recessive mutations in CLCN1. However, SCN4A mutations are occasionally implicate...

Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports

INTRODUCTION Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia. METHODS We report the clinical presentations of two individuals with Myotonia Congenita (MC). RESULTS Patient ...

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on channel function have been characterized both in vitro and in vivo. However, little is known about the consequences of SCN4A mutations downstr...

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the m...