Congenital myasthenic syndrome in China: genetic and myopathological characterization
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51346
Abstract: 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. read more here.
Keywords: china genetic; myopathological characterization; congenital myasthenic; syndrome china ... See more keywords
Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles
Sign Up to like & getrecommendations! Published in 2021 at "Neurological Sciences"
DOI: 10.1007/s10072-020-05021-0
Abstract: Background: Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular transmission caused by genetic defects, which is characterized by fatigable muscle weakness. Case presentation: Herein, we report a case of… read more here.
Keywords: heterozygous variants; rimmed vacuoles; muscle; congenital myasthenic ... See more keywords
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2019.12.007
Abstract: Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. The presence of AChR autoantibody is pathogenic and highly sensitive and specific for autoimmune myasthenia… read more here.
Keywords: presence; congenital myasthenic; myasthenic syndrome; novel pathogenic ... See more keywords
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2016.11.014
Abstract: The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS.… read more here.
Keywords: congenital myasthenic; identified kinships; myasthenic syndrome; syndrome israel ... See more keywords
Lambert-Eaton myasthenic syndrome (LEMS) in a patient with lung cancer under treatment with pembrolizumab: a case study.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of chemotherapy"
DOI: 10.1080/1120009x.2022.2073162
Abstract: Pembrolizumab is an immune checkpoint inhibitor (ICI) against the programmed death-1 receptor. Herein, we introduce a rare adverse effect during using pembrolizumab. We present the case of an 80-year-old man with biopsy-proven unresectable double primary… read more here.
Keywords: syndrome lems; myasthenic syndrome; eaton myasthenic; lambert eaton ... See more keywords
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000222
Abstract: Objectives: To investigate the mutational spectrum and genotype–phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes. Methods: CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected… read more here.
Keywords: congenital myasthenic; myasthenic syndrome; syndrome spectrum;
Ophthalmoplegia associated with lung adenocarcinoma in a patient with the Lambert–Eaton myasthenic syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Medicine"
DOI: 10.1097/md.0000000000006484
Abstract: Rationale: The Lambert–Eaton myasthenic syndrome (LEMS) is a neuromuscular disease; its unique symptoms of LEMS include dry mouth with a metallic taste, constipation, and erectile dysfunction. As it is quite rare, isolated ocular muscle impairment… read more here.
Keywords: lung adenocarcinoma; eaton myasthenic; myasthenic syndrome; lambert eaton ... See more keywords
CHRNE compound heterozygous mutations in congenital myasthenic syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000010347
Abstract: Rationale: Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify… read more here.
Keywords: diagnosis; congenital myasthenic; myasthenic syndrome; cms ... See more keywords
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006242
Abstract: Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identification are critical… read more here.
Keywords: genome sequencing; snap25 variant; myasthenic syndrome; novo snap25 ... See more keywords
Successful treatment of advanced lung adenocarcinoma complicated with Lambert‐Eaton myasthenic syndrome: A case report and literature review
Sign Up to like & getrecommendations! Published in 2020 at "Thoracic Cancer"
DOI: 10.1111/1759-7714.13385
Abstract: Lambert‐Eaton myasthenic syndrome (LEMS) is a rare disease characterized by involvement of the neuromuscular junction. Most cases have an underlying malignancy, especially small‐cell lung cancer (SCLC), while adenocarcinoma is less common. Here, we report a… read more here.
Keywords: lung adenocarcinoma; eaton myasthenic; myasthenic syndrome; lambert eaton ... See more keywords
Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.17417
Abstract: Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine… read more here.
Keywords: neuromuscular centre; congenital myasthenic; genetic features; myasthenic syndrome ... See more keywords