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Homozygosity for dominant mutations increases severity of muscle channelopathies
Muscle & Nerve, 11/06/09

Arzel–hézode M et al. – The authors hypothesized that the presence of 100% defective ion channels in the homozygotes could account for the most severe phenotype. This suggests that the severity of muscle channelopathies depends both on the degree of channel impairment caused by the mutation and on the number of mutant channels engaged in the pathophysiological process. Overall, this study has practical consequences for the diagnosis of muscle channelopathies and raises new questions about their pathophysiology.

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