These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
29. 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. PubMed ID: 10737121 [TBL] [Abstract][Full Text] [Related]
31. Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita. Kornblum C; Lutterbey GG; Czermin B; Reimann J; von Kleist-Retzow JC; Jurkat-Rott K; Wattjes MP Acta Neurol Scand; 2010 Feb; 121(2):131-5. PubMed ID: 20047568 [TBL] [Abstract][Full Text] [Related]
32. The autosomal recessive (Becker) form of myotonia congenita. Kuhn E; Fiehn W; Seiler D; Schröder JM Muscle Nerve; 1979; 2(2):109-17. PubMed ID: 397412 [TBL] [Abstract][Full Text] [Related]
33. Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive. Morales F; Cuenca P; del Valle G; Vásquez M; Brian R; Sittenfeld M; Johnson K; Lin X; Ashizawa T Hum Genet; 2007 Nov; 122(3-4):413. PubMed ID: 17717708 [No Abstract] [Full Text] [Related]
34. [Familial case of myotonia with muscular hypertrophy, weakness corrected by effort and atrophy of type II fibers]. Pépin B; Haguenau M; Mikol J Rev Neurol (Paris); 1975 Apr; 131(4):285-92. PubMed ID: 1224112 [TBL] [Abstract][Full Text] [Related]
35. Phenotypic variability in myotonia congenita. Colding-Jørgensen E Muscle Nerve; 2005 Jul; 32(1):19-34. PubMed ID: 15786415 [TBL] [Abstract][Full Text] [Related]
36. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Colding-Jørgensen E; DunØ M; Schwartz M; Vissing J Muscle Nerve; 2003 Apr; 27(4):449-55. PubMed ID: 12661046 [TBL] [Abstract][Full Text] [Related]
37. [Cardiological studies on patients with autosomal dominant and autosomal recessive hereditary myotonia congenital and myotonia dystrophica]. Bodem R; Boikhan MS; Kuhn E Verh Dtsch Ges Inn Med; 1971; 77():1289-90. PubMed ID: 5156008 [No Abstract] [Full Text] [Related]
38. Myotonia congenita (Thomsen's disease) report of five cases in a family. Pusponegoro HD; Zacharia J; Passat J Paediatr Indones; 1991; 31(5-6):170-8. PubMed ID: 1896199 [TBL] [Abstract][Full Text] [Related]
39. Myotonia levior: contribution to the nosography. Siciliano G; Risaliti R; Vignocchi G; Rossi B Riv Neurol; 1988; 58(5):204-9. PubMed ID: 3231989 [TBL] [Abstract][Full Text] [Related]
40. The skeletal muscle chloride channel in dominant and recessive human myotonia. Koch MC; Steinmeyer K; Lorenz C; Ricker K; Wolf F; Otto M; Zoll B; Lehmann-Horn F; Grzeschik KH; Jentsch TJ Science; 1992 Aug; 257(5071):797-800. PubMed ID: 1379744 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]