CLCN1

Gene name: chloride channel, voltage-sensitive 1
OMIM ID: 118425
Chromosome location: 7q34

Mutations

Disease/Phenotype	Myotonia congenita, recessive
Reference transcript	NM_000083.2
DNA Change	c.1444G>A
A.A. Change	p.Gly482Arg
Exon/Intron	exon 13
Mutation Type	substitution
Reference	Ratbi I, Elalaoui SC, Escudero A, Kriouile Y, Molano J, Sefiani A.Moroccan consanguineous family with Becker myotonia and review. Ann Indian Acad Neurol. 2011 Oct;14(4):307-9.

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