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1. A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)


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2. Homozygosity for CCTG mutation in myotonic dystrophy type 2


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3. Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene


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4. Homozygosity for CCTG mutation in myotonic dystrophy type 2


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5. Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

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6. Motor neuropathy in porphobilinogen deaminase–deficient mice imitates the peripheral neuropathy of human acute porphyria

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7. Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita


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8. Altered Na+ channel activity and reduced Cl- conductance cause hyperexcitability in recessive generalized myotonia (Becker)


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9. Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH


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10. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease


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