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22. Dystrophia myotonica and myotonia congenita concurring in one family. A clinical and genetic study. Höweler CJ; Busch HF; Bernini LF; van Loghem E; Meera Khan P; Nijenhuis LE Brain; 1980 Sep; 103(3):497-513. PubMed ID: 7417778 [TBL] [Abstract][Full Text] [Related]
23. Targeted Next Generation Sequencing in patients with Myotonia Congenita. Ferradini V; Cassone M; Nuovo S; Bagni I; D'Apice MR; Botta A; Novelli G; Sangiuolo F Clin Chim Acta; 2017 Jul; 470():1-7. PubMed ID: 28427807 [TBL] [Abstract][Full Text] [Related]
24. [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. PubMed ID: 23225051 [TBL] [Abstract][Full Text] [Related]
25. [Clinical-genealogical studies on three cases of Myotonia congenita (Thomsen) and eight new cases of Dystrophia myotonica (Steiner-Batten) with special attention to the differential diagnosis of the two forms of the disease]. FRANCESCHETTI A; KLINE D; WALTHARD KM Schweiz Arch Neurol Psychiatr; 1948; 61(1-2):152-207. PubMed ID: 18870610 [No Abstract] [Full Text] [Related]
26. Phenotypic variability in myotonia congenita. Colding-Jørgensen E Muscle Nerve; 2005 Jul; 32(1):19-34. PubMed ID: 15786415 [TBL] [Abstract][Full Text] [Related]
28. [Steinert myotonic dystrophy and its correlation with Thomsen congenital myotonia]. BERGONZI M; AZZI E Rass Studi Psichiatr; 1949; 38(5):633-98. PubMed ID: 15394240 [No Abstract] [Full Text] [Related]
29. Linkage of atypical myotonia congenita to a sodium channel locus. Ptacek LJ; Tawil R; Griggs RC; Storvick D; Leppert M Neurology; 1992 Feb; 42(2):431-3. PubMed ID: 1310531 [TBL] [Abstract][Full Text] [Related]
30. 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; Pika U; Deymeer F; Rüdel R; Lehmann-Horn F Hum Mol Genet; 1994 Jul; 3(7):1123-8. PubMed ID: 7981681 [TBL] [Abstract][Full Text] [Related]
31. Thomsen disease with ptosis and abnormal MR findings. Mori Y; Yamashita S; Kato M; Masuda T; Takamatsu K; Kumamoto T; Sasaki R; Ando Y Neuromuscul Disord; 2016 Nov; 26(11):805-808. PubMed ID: 27666773 [TBL] [Abstract][Full Text] [Related]
32. 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. PubMed ID: 20120005 [TBL] [Abstract][Full Text] [Related]
33. Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a. Ardissone A; Brugnoni R; Gandioli C; Milani M; Ciano C; Uziel G; Moroni I Muscle Nerve; 2014 Jul; 50(1):145-7. PubMed ID: 24515601 [No Abstract] [Full Text] [Related]
34. [Psychopathologic findings in myopathy; clinicopsychiatric research in myotonia congenita Thomsen and myasthenia gravis pseudoparalytica]. LENNARTZ H; SPIEGELBERG U Nervenarzt; 1956 Mar; 27(3):98-103. PubMed ID: 13322132 [No Abstract] [Full Text] [Related]
35. [Contribution to the clinical and genetic study of dystrophia myotonica (Steinert) and of myotonia congenita (Thomsen). Description of 8 families afflicted with Steinert's disease and of a recent case of Thomsen's disease]. DUMAINE L; LOZERON P J Genet Hum; 1961 Dec; 10():221-96. PubMed ID: 13888352 [No Abstract] [Full Text] [Related]
36. Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? Licchetta L; Bisulli F; Naldi I; Mainieri G; Tinuper P Epileptic Disord; 2014 Sep; 16(3):362-5. PubMed ID: 25036107 [TBL] [Abstract][Full Text] [Related]
37. Myotonia congenita. Lossin C; George AL Adv Genet; 2008; 63():25-55. PubMed ID: 19185184 [TBL] [Abstract][Full Text] [Related]
38. Distinguishing paramyotonia congenita and myotonia congenita by electromyography. Subramony SH; Malhotra CP; Mishra SK Muscle Nerve; 1983 Jun; 6(5):374-9. PubMed ID: 6888415 [TBL] [Abstract][Full Text] [Related]
39. [On the problem of potassium in myotonia congenita (Thomsen)]. HABECK D Nervenarzt; 1961 Jul; 32():326-9. PubMed ID: 13710220 [No Abstract] [Full Text] [Related]