Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.
Sloan Brown
K
K
Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
George
A L
AL
D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics*
D015220:Calcium Channels