November 1, 1999Human Mutation

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

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Population

Four unrelated families with myotonia congenita (MC) and 42 healthy controls

Design

Case_series

Authors

Discussion

Broadens CLCN1 spectrum in myotonia congenita; hypothesis-generating and should not yet change clinical practice.

Population

Four unrelated families with myotonia congenita (MC) and 42 healthy controls

Outcome

Identification of CLCN1 gene mutations

The identification of three novel CLCN1 mutations expands the known genetic spectrum of myotonia congenita.

Brugnoni et al. (1999) studied this question.

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