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myotonia congenita (Thomsen disease)相关文献:
Myotonia congenita.
Lossin C, George AL Jr.
Adv Genet. 2008;63:25-55. doi: 10.1016/S0065-2660(08)01002-X.
PMID:19185184
[Thomsen disease (myotonia congenita].
Colding-Jørgensen E.
Ugeskr Laeger. 2004 Sep 6;166(37):3179-84.
PMID:15384367
Myotonia Congenita (Thomsen's disease).
Kim C, Yamada S.
Hawaii Med J. 1974 Jan;33(1):15-8.
PMID:4811601
Adolph Seeligmuller's contribution to myotonia congenita Thomsen.
Arendt C, Zierz S.
Neuromuscul Disord. 2020 Dec;30(12):999-1004. doi: 10.1016/j.nmd.2020.10.004. Epub 2020 Oct 20.
PMID:33221127
Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y, Qiu Y, Xiong Y, Shen Y, Jiang K, Yi H, Huang P, Zhu Y, Zhu M, Zhou M, Hong D, Tan D.
Channels (Austin). 2024 Dec;18(1):2349823. doi: 10.1080/19336950.2024.2349823. Epub 2024 May 8.
PMID:38720415
Myotonia congenita.
Gutmann L, Phillips LH 2nd.
Semin Neurol. 1991 Sep;11(3):244-8. doi: 10.1055/s-2008-1041228.
PMID:1947487
[Dominant myotonia congenita(Thomsen disease)].
Saito K, Yazaki E.
Ryoikibetsu Shokogun Shirizu. 2001;(35):120-2.
PMID:11555886
Myotonia congenita.
HIRSCH DR, DANCIS J, WARD RS.
J Pediatr. 1949 Dec;35(6):760-6, illust. doi: 10.1016/s0022-3476(49)80120-x.
PMID:15395008
Acetazolamide-responsive myotonia congenita.
Trudell RG, Kaiser KK, Griggs RC.
Neurology. 1987 Mar;37(3):488-91. doi: 10.1212/wnl.37.3.488.
PMID:3822145
An unusual mutation in myotonia congenita.
Chien SC, Wu JW, Su YJ.
Am J Med Sci. 2022 Jun;363(6):e53-e55. doi: 10.1016/j.amjms.2020.11.010. Epub 2020 Nov 12.
PMID:33531161
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