Myotonia Congenita, Autosomal Dominant (MCAD)

Alias:

Myotonia Levior

Congenital Myotonia, Autosomal Dominant Form

Thomsen Disease

Myotonia Congenita, Dominant

Thd

Generalized Myotonia of Thomsen

Thomsen's Disease

Mcad

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myotonia Congenita, Autosomal Dominant, also known as myotonia levior, is related to myotonia congenita, autosomal recessive and myotonia, and has symptoms including muscular stiffness and lid lag. An important gene associated with Myotonia Congenita, Autosomal Dominant is CLCN1 (Chloride Voltage-Gated Channel 1). Affiliated tissues include skeletal muscle and tongue, and related phenotypes are myotonia with warm-up phenomenon and myotonia

Related ID：

MALACARDS：MYT027

OMIM：160800

MESH：D009224