Population
20 unrelated families with myotonia congenita
Design
Cohort
Authors
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CLCN1 mutations may complicate genetic counseling in myotonia congenita; leaves open penetrance questions for larger confirmatory studies.
Mutations in the CLCN1 gene causing myotonia congenita can exhibit complex inheritance patterns, including incomplete dominance and reduced penetrance, rather than strictly classic Mendelian behavior.
Plassart‐Schiess et al. (1998) studied this question.
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