Results 1 to 10 of about 163 (89)

Congenital Myasthenic Syndrome

罕见病研究, 2022
Congenital Myasthenic syndrome (CMS) is a group of partially treatable genetic disorders characterized by dysfunction of neuromuscular junction signaling.With the popularization of high-throughput sequencing and in-depth understanding of the disease in ...
WANG Wenqing, ZHAO Yuying, YAN Chuanzhu
doaj   +1 more source

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Annals of Clinical and Translational Neurology, 2021
Objective We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes.
Yawen Zhao, Ying Li, Yang Bian, Sheng Yao, Penju Liu, Meng Yu, Wei Zhang, Zhaoxia Wang, Yun Yuan   +8 more
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Electrophysiological evaluation of the neuromuscular junction: a brief review

Arquivos de Neuro-Psiquiatria, 2023
The nerve terminal and muscle membrane compose the neuromuscular junction. After opening the voltage-gated calcium channels, action potentials from the motor axons provoke a cascade for the acetylcholine release from synaptic vesicles to the synaptic ...
João Aris Kouyoumdjian, Eduardo de Paula Estephan   +1 more
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Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report

SAGE Open Medical Case Reports, 2023
Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as ...
Khairunnisa Mukhtiar, Mohammad Raza, Isbaah Tejani, Farhan Ali, Shahnaz Ibrahim   +4 more
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Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene

Stem Cell Research, 2020
Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for ...
Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdee T. Ryalat, Abdalla Awidi   +6 more
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Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report

Journal of Medical Case Reports, 2022
Background Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new ...
Mohamed Islam Kediha, Meriem Tazir, Damien Sternberg, Bruno Eymard, Lamia Alipacha   +4 more
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Presynaptic Congenital Myasthenic Syndrome

Pediatric Neurology Briefs, 2001
Three patients (ages 7, 9, and 14 years) with a new form of presynaptic congenital myasthenic syndrome (CMS) are reported from the University of California, Davis; University of Minnesota; and the University of Chicago.
J Gordon Millichap
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Congenital Myasthenic Syndromes: End-Plate AChR Lack

Pediatric Neurology Briefs, 1998
Two families with 5 affected members suffering from congenital myasthenic syndrome are reported from University Hospital, Bonn, Germany.
J Gordon Millichap
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CHRNE Mutation and Congenital Myasthenia

Pediatric Neurology Briefs, 2009
The CHRNE e1293insG mutation was identified in 14 (60%) of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.
J Gordon Millichap
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Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene

Stem Cell Research, 2021
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS). In this study, we generated an induced pluripotent stem cell line (iPSC) derived from a 14-day-old male CMS patient carrying compound heterozygote mutations (c.532-2A > G ...
Haiyan Zhang, Huawei Zhang, Yanyan Ma, Yuqiang Lv, Zhongtao Gai, Yi Liu   +5 more
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