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24. Recessive CLCN1 mutation presenting as Thomsen disease. Thomas J; Tarleton J; Baker SK Muscle Nerve; 2008 Nov; 38(5):1515-1517. PubMed ID: 18816629 [TBL] [Abstract][Full Text] [Related]
25. [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]
26. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. Sasaki R; Ito N; Shimamura M; Murakami T; Kuzuhara S; Uchino M; Uyama E Muscle Nerve; 2001 Mar; 24(3):357-63. PubMed ID: 11353420 [TBL] [Abstract][Full Text] [Related]
28. [2 unusual cases of myotonic dystrophy, the first presenting as Thomsen's disease, the second with pharyngoesophageal motility disorders leading to broncho-pulmonary complications]. Mendez H; Klein D J Genet Hum; 1975 Mar; 23(1):29-42. PubMed ID: 1165478 [TBL] [Abstract][Full Text] [Related]
29. Relationship of dystrophia myotonica (myotonic dystrophy) and myotonia congenita (Thomsen's disease). CAUGHEY JE Neurology; 1958 Jun; 8(6):469-76. PubMed ID: 13566386 [No Abstract] [Full Text] [Related]
30. [Karyologic studies in cases of Thomsen's myotonia and atrophic myotonia]. Mularek O; Bialecki M Neurol Neurochir Pol; 1969; 3(3):311-4. PubMed ID: 5803008 [No Abstract] [Full Text] [Related]
31. [Nosological similarity of Thomsen's myotonia and myotonia atrophica]. Lobzin VS; Buzinovskiĭ IS Zh Nevropatol Psikhiatr Im S S Korsakova; 1972; 72(7):976-8. PubMed ID: 5077769 [No Abstract] [Full Text] [Related]
32. 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]
33. [Evolution of a case of Thomsen's disease into Steinert's disease]. STRZALKO M Neurol Neurochir Psychiatr Pol; 1959; 9():453-61. PubMed ID: 13835348 [No Abstract] [Full Text] [Related]
34. Genetic approaches to the nosology of muscular disease: myotonias and similar diseases. Becker PE Birth Defects Orig Artic Ser; 1971 Feb; 7(2):52-62. PubMed ID: 5293617 [TBL] [Abstract][Full Text] [Related]
35. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report. Landim JID; Ribeiro IS; Oliveira EB; Freitas HC; Brito LA; Maia IHM; Távora DGF; Rodrigues CL BMC Neurol; 2023 Apr; 23(1):171. PubMed ID: 37106355 [TBL] [Abstract][Full Text] [Related]
36. Foot deformity in myotonic dystrophy. Ray S; Bowen JR; Marks HG Foot Ankle; 1984; 5(3):125-30. PubMed ID: 6519603 [TBL] [Abstract][Full Text] [Related]
37. [On the Conceptual History of Myotonia Congenita: The Contributions of Julius Thomsen and Adolph Seeligmüller]. Arendt C; Zierz S Fortschr Neurol Psychiatr; 2022 Sep; 90(9):406-415. PubMed ID: 34448176 [TBL] [Abstract][Full Text] [Related]
38. [Clinical, humoral and histological studies of a case of myotonic syndrome. On the relation between Thomsen's disease, congenital paramyotonia and myotonic dystrophy]. VENTO R Minerva Pediatr; 1962 Feb; 14():110-20. PubMed ID: 13925342 [No Abstract] [Full Text] [Related]
39. 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]
40. Recessive congenital myotonia and pregnancy. Schwartz IL; Dingfelder JR; O'Tuama L; Swift M Int J Gynaecol Obstet; 1979; 17(2):194-6. PubMed ID: 41769 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]