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Results: 1 to 20 of 248

1.

Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.

Heine R, George AL Jr, Pika U, Deymeer F, Rüdel R, Lehmann-Horn F.

Hum Mol Genet. 1994 Jul;3(7):1123-8.

PMID:
7981681
[PubMed - indexed for MEDLINE]
2.

Novel muscle chloride channel mutations and their effects on heterozygous carriers.

Mailänder V, Heine R, Deymeer F, Lehmann-Horn F.

Am J Hum Genet. 1996 Feb;58(2):317-24.

PMID:
8571958
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC.

Nat Genet. 1993 Apr;3(4):305-10.

PMID:
7981750
[PubMed - indexed for MEDLINE]
4.

Myotonia levior is a chloride channel disorder.

Lehmann-Horn F, Mailänder V, Heine R, George AL.

Hum Mol Genet. 1995 Aug;4(8):1397-402.

PMID:
7581380
[PubMed - indexed for MEDLINE]
5.

ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.

Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ.

Hum Mol Genet. 1998 Oct;7(11):1753-60.

PMID:
9736777
[PubMed - indexed for MEDLINE]
Free Article
6.

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.

de Diego C, Gámez J, Plassart-Schiess E, Lasa A, Del Río E, Cervera C, Baiget M, Gallano P, Fontaine B.

J Neurol. 1999 Sep;246(9):825-9.

PMID:
10525982
[PubMed - indexed for MEDLINE]
7.

A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog.

Rhodes TH, Vite CH, Giger U, Patterson DF, Fahlke C, George AL Jr.

FEBS Lett. 1999 Jul 30;456(1):54-8.

PMID:
10452529
[PubMed - indexed for MEDLINE]
Free Article
8.

A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.

Finnigan DF, Hanna WJ, Poma R, Bendall AJ.

J Vet Intern Med. 2007 May-Jun;21(3):458-63.

PMID:
17552451
[PubMed - indexed for MEDLINE]
9.

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.

Sasaki R, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E.

Neuromuscul Disord. 1999 Dec;9(8):587-92.

PMID:
10619717
[PubMed - indexed for MEDLINE]
10.

Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.

Esteban J, Neumeyer AM, McKenna-Yasek D, Brown RH.

Neurogenetics. 1998 Mar;1(3):185-8.

PMID:
10737121
[PubMed - indexed for MEDLINE]
11.

Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

Koch MC, Ricker K, Otto M, Wolf F, Zoll B, Lorenz C, Steinmeyer K, Jentsch TJ.

J Med Genet. 1993 Nov;30(11):914-7.

PMID:
8301644
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.

Chen L, Schaerer M, Lu ZH, Lang D, Joncourt F, Weis J, Fritschi J, Kappeler L, Gallati S, Sigel E, Burgunder JM.

Muscle Nerve. 2004 May;29(5):670-6.

PMID:
15116370
[PubMed - indexed for MEDLINE]
13.

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B.

Hum Mutat. 1998;11(4):331.

PMID:
10215406
[PubMed - indexed for MEDLINE]
14.

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M.

Eur J Hum Genet. 2001 Dec;9(12):903-9. Erratum in: Eur J Hum Genet. 2010 Feb;18(2):264.

PMID:
11840191
[PubMed - indexed for MEDLINE]
Free Article
15.

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;56(1):1-11.

PMID:
18624224
[PubMed - indexed for MEDLINE]
16.

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ.

EMBO J. 1994 Feb 15;13(4):737-43.

PMID:
8112288
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC.

Am J Hum Genet. 1995 Dec;57(6):1325-34.

PMID:
8533761
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

Wollnik B, Kubisch C, Steinmeyer K, Pusch M.

Hum Mol Genet. 1997 May;6(5):805-11.

PMID:
9158157
[PubMed - indexed for MEDLINE]
Free Article
19.

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.

Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.

Neurology. 1998 Apr;50(4):1176-9.

PMID:
9566422
[PubMed - indexed for MEDLINE]
20.

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.

Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ.

Hum Mol Genet. 1994 Jun;3(6):941-6.

PMID:
7951242
[PubMed - indexed for MEDLINE]

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