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Nagamitsu, S., Matsuura, T., Khajavi, M., Armstrong, R., Gooch, C., Harati, Y. and Ashizawa, T. (2000) A “Dystrophic” Variant of Autosomal Recessive Myotoniacongenita Caused by Novel Mutations in the CLCN1 Gene. Neurology, 55, 1697-1703.

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