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Items: 1 to 20 of 176

1.

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.

Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M.

Muscle Nerve. 2012 Feb;45(2):279-83. doi: 10.1002/mus.22252.

PMID:
22246887
2.

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Kumar KR, Ng K, Vandebona H, Davis MR, Sue CM.

Muscle Nerve. 2010 Mar;41(3):412-5. doi: 10.1002/mus.21610.

PMID:
20120005
3.

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

Shalata A, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU.

Muscle Nerve. 2010 Apr;41(4):464-9. doi: 10.1002/mus.21525.

PMID:
19697366
4.

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB.

Yale J Biol Med. 2013 Mar;86(1):101-6. Epub 2013 Mar 12.

5.

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR.

Pediatr Neurol. 2010 May;42(5):365-8. doi: 10.1016/j.pediatrneurol.2010.01.014.

PMID:
20399394
6.

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
7.

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M.

J Clin Neurophysiol. 2011 Feb;28(1):39-44. doi: 10.1097/WNP.0b013e31820510d7.

PMID:
21221019
8.

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
9.

Dosage effect of a dominant CLCN1 mutation: a novel syndrome.

Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M.

J Child Neurol. 2008 Feb;23(2):163-6. doi: 10.1177/0883073807307974.

PMID:
18263754
10.
11.

Autosomal dominant monosymptomatic myotonia permanens.

Colding-Jørgensen E, Duno M, Vissing J.

Neurology. 2006 Jul 11;67(1):153-5.

PMID:
16832098
12.

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.

Zhang J, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ.

Neurology. 1996 Oct;47(4):993-8.

PMID:
8857733
13.

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
14.

Recessive CLCN1 mutation presenting as Thomsen disease.

Thomas J, Tarleton J, Baker SK.

Muscle Nerve. 2008 Nov;38(5):1515-7. doi: 10.1002/mus.21121.

PMID:
18816629
15.

Electrical myotonia in heterozygous carriers of recessive myotonia congenita.

Deymeer F, Lehmann-Horn F, Serdaroğlu P, Cakirkaya S, Benz S, Rüdel R, Ozdemir C.

Muscle Nerve. 1999 Jan;22(1):123-5.

PMID:
9883868
16.

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.

Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C.

Neuromuscul Disord. 2012 Apr;22(4):361-7. doi: 10.1016/j.nmd.2011.10.001. Epub 2011 Dec 23.

17.

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Chen ZT, He J, Chen WJ, Chen SG, Lin JL, Ye QY, Huang HP.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):690-2. doi: 10.3760/cma.j.issn.1003-9406.2012.06.014. Chinese.

PMID:
23225051
18.

Phenotypic variability in myotonia congenita.

Colding-Jørgensen E.

Muscle Nerve. 2005 Jul;32(1):19-34. Review.

PMID:
15786415
19.

Diffusely increased insertional activity: "EMG disease" or asymptomatic myotonia congenita? A report of 2 cases.

Mitchell CW, Bertorini TE.

Arch Phys Med Rehabil. 2007 Sep;88(9):1212-3.

PMID:
17826470
20.

A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.

Shirakawa T, Sakai K, Kitagawa Y, Hori A, Hirose G.

Neurology. 2002 Oct 8;59(7):1091-4.

PMID:
12370472

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