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PUBMED FOR HANDHELDS

Journal Abstract Search


266 related items for PubMed ID: 19697366

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  • 24. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
    Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B.
    Neuromuscul Disord; 2014 Nov; 24(11):953-9. PubMed ID: 25088311
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  • 25. Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
    Grunnet M, Jespersen T, Colding-Jørgensen E, Schwartz M, Klaerke DA, Vissing J, Olesen SP, Dunø M.
    Muscle Nerve; 2003 Dec; 28(6):722-32. PubMed ID: 14639587
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  • 26. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.
    Souza LS, Calyjur P, Ribeiro AF, Gurgel-Giannetti J, Pavanello RCM, Zatz M, Vainzof M.
    J Mol Neurosci; 2021 Nov; 71(11):2275-2280. PubMed ID: 33464536
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  • 30. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
    George AL, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM.
    Hum Mol Genet; 1994 Nov; 3(11):2071-2. PubMed ID: 7874130
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  • 35. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
    Richardson RC, Tarleton JC, Bird TD, Gospe SM.
    Muscle Nerve; 2014 Apr; 49(4):593-600. PubMed ID: 23893571
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  • 36. [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].
    Nakamura Y, Sato H, Kakiuchi K, Miyano Y, Hosokawa T, Arawaka S.
    Rinsho Shinkeigaku; 2024 May 24; 64(5):344-348. PubMed ID: 38644209
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  • 38. Gene symbol: CLCN1. Disease: Myotonia congenita.
    Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.
    Hum Genet; 2008 Feb 24; 123(1):104-5. PubMed ID: 18386321
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  • 39. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.
    Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.
    Rev Biol Trop; 2008 Mar 24; 56(1):1-11. PubMed ID: 18624224
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