- 関
- myotonia congenita、Thomsen's disease
WordNet
- draw from specific cases for more general cases (同)generalise, extrapolate, infer
- become systemic and spread throughout the body; "this kind of infection generalizes throughout the immune system" (同)generalise
- speak or write in generalities (同)generalise
- not biologically differentiated or adapted to a specific function or environment; "the hedgehog is a primitive and generalized mammal" (同)generalised
- abnormally long muscular contractions; slow relaxation of a muscle after a contraction
UpToDate Contents
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English Journal
- Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
- Mankodi A1, Grunseich C2, Skov M3, Cook L4, Aue G4, Purev E4, Bakar D2, Lehky T5, Jurkat-Rott K6, Pedersen TH3, Childs RW4.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.
- We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of
- PMID 26494408
- Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
- Ronstedt K1, Sternberg D2, Detro-Dassen S3, Gramkow T1, Begemann B1, Becher T1, Kilian P1, Grieschat M1, Machtens JP4, Schmalzing G3, Fischer M1, Fahlke C4.
- Scientific reports.Sci Rep.2015 Oct 27;5:15382. doi: 10.1038/srep15382.
- Mutations in the muscle chloride channel gene (CLCN1) cause myotonia congenita, an inherited condition characterized by muscle stiffness upon sudden forceful movement. We here studied the functional consequences of four disease-causing mutations that predict amino acid substitutions Q43R, S70L, Y137
- PMID 26502825
- ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
- Imbrici P1, Maggi L2, Mangiatordi GF1, Dinardo MM1, Altamura C1, Brugnoni R2, Alberga D3, Pinter GL4, Ricci G5, Siciliano G5, Micheli R6, Annicchiarico G7, Lattanzi G3, Nicolotti O1, Morandi L2, Bernasconi P2, Desaphy JF1, Mantegazza R2, Camerino DC1.
- The Journal of physiology.J Physiol.2015 Sep 15;593(18):4181-99. doi: 10.1113/JP270358. Epub 2015 Jul 14.
- KEY POINTS: Loss-of-function mutations of the skeletal muscle ClC-1 channel cause myotonia congenita with variable phenotypes. Using patch clamp we show that F484L, located in the conducting pore, probably induces mild dominant myotonia by right-shifting the slow gating of ClC-1 channel, without exe
- PMID 26096614
Japanese Journal
- 著明な高CK血症と軽微な眼輪筋の筋強直を呈したナトリウムチャネル異常症の1例
- HIV感染症を伴ったIsaacs症候群(神経内科学教室岩田誠教授退任記念特別号)
- 骨格筋Naチャネル遺伝子変異と家族性周期性四肢麻痺
Related Links
- Myotonia permanens is characterized by constant, generalized myotonia that can affect respiration and even lead to hypoxia and respiratory acidosis. 68, 86 It has been reported with neonatal episodic laryngospasm, 89 and to 86,
- Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation (hyperexcitability). As a result, affected individuals
- Generalized Myotonia of Thomsen (Myotonia congenita): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. × By continuing to use Symptoma®, you confirm you accept the cookies. More ...
★リンクテーブル★
[★]
- 英
- generalized myotonia
- 関
- 先天性筋緊張症、トムゼン病、全身性筋強直
[★]
- 英
- generalized myotonia
- 関
- 全身性筋緊張
[★]
- 関
- generalisation、generalise、generalization
[★]
- 関
- generalization、systemic、systemically
[★]
筋緊張症、筋強直