Referenced in: none

Automatically associated channels: ClC1 , ClC4

Title: Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Authors: F Sangiuolo, A Botta, A Mesoraca, S Servidei, L Merlini, G Fratta, G Novelli, B Dallapiccola

Journal, date & volume: Hum. Mutat., 1998 , 11, 331

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/10215406

Abstract