نتایج جستجو برای: nondystrophic myotonia

تعداد نتایج: 1472  

Journal: :Deutsche Zeitschrift für Nervenheilkunde 1922

Journal: :American journal of human genetics 1995
C Meyer-Kleine K Steinmeyer K Ricker T J Jentsch M C Koch

Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane. Recently, these two phenotypes have been associated with mutations in the major muscle chloride channel gene CLCN1 on human chromosome 7q35. We have systematically screene...

Journal: :Revista de biologia tropical 2008
Fernando Morales Patricia Cuenca Gerardo del Valle Melissa Vásquez Roberto Brian Mauricio Sittenfeld Keith Johnson Xi Lin Tetsuo Ashizawa

Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively. Here we confirm the clinical diagnosis of a family diagnosed with a myotonic condition many years ago and report a new mutation in the CLCN1 gene. The clinical diagnosis was established using...

2012
Tzu-Rong Su Wen-Shan Zei Ching-Chyuan Su George Hsiao Min-Jon Lin

The purpose of this study was to investigate the effect of KCNQ (potassium channel, voltage-gated, KQT-like subfamily) openers in preventing myotonia caused by anthracene-9-carboxylic acid (9-AC, a chloride channel blocker). An animal model of myotonia can be elicited in murine skeletal muscle by 9-AC treatment. KCNQ openers, such as retigabine and flupirtine, can inhibit the increased twitch a...

Journal: :Medical History 1968

Journal: :Proceedings of the Royal Society of Medicine 1923

Journal: :Journal of General Physiology 1996

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1978

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