نتایج جستجو برای: congenital myasthenic syndrome

تعداد نتایج: 719275  

2017
Vincenzo Salpietro Weichun Lin Andrea Delle Vedove Markus Storbeck Yun Liu Stephanie Efthymiou Andreea Manole Sarah Wiethoff Qiaohong Ye Anand Saggar Kenneth McElreavey Shyam S. Krishnakumar Matthew Pitt Oscar D. Bello James E. Rothman Lina Basel‐Vanagaite Monika Weisz Hubshman Sharon Aharoni Adnan Y. Manzur Brunhilde Wirth Henry Houlden

We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS). Whole exome or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC in a Kuwaiti family and c.146G>C in an Israeli family. VAMP1 is crucial for vesicle fusion at presynaptic neuromuscular junction (NMJ). Electrodiagnostic examination showed severely low co...

Journal: :Acta biochimica Polonica 2000
B Dworakowska K Dołowy

There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, famili...

Journal: :The Journal of clinical investigation 1995
S Camp S Bon Y Li D K Getman A G Engel J Massoulié P Taylor

A congenital myasthenic condition has been described in several patients characterized by a deficiency in end-plate acetylcholinesterase (AChE). The characteristic form of AChE in the end-plate basal lamina has the catalytic subunits disulfide linked to a collagen-like tail unit. Southern analysis of the gene encoding the catalytic subunits revealed no differences between patient and control DN...

2015
Mohammad Alinoor Rahman Farhana Nasrin Akio Masuda Kinji Ohno

RNPs: Ribonucleoproteins; snRNPs: Small Nuclear Ribonucleoproteins; snRNA: Small Nuclear RNA; BP: Branch Point; PPT: Poly Pyrimidine Tract; ISE: Intronic Splicing Enhancer; ESE: Exonic Splicing Enhancer; ISS: Intronic Splicing Silencer; ESS: Exonic Splicing Silencer; SR Proteins: Serine/ArginineRich Proteins; RRM: RNA-Recognition Motif; RS Domains: Arginine and Serine Rich Domains; hnRNPs: Hete...

Journal: :Annals of the New York Academy of Sciences 2008

Journal: :Clinical and Experimental Neuroimmunology 2016

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1956

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