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
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2154
Abstract: BACKGROUND Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other… read more here.
Keywords: slc5a7 variants; cms20; congenital myasthenic; suggests trends ... See more keywords
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-8736-8
Abstract: The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study… read more here.
Keywords: common chrne; chrne mutation; mutation brazilian; congenital myasthenic ... See more keywords
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Sign Up to like & getrecommendations! Published in 2018 at "Neurological Sciences"
DOI: 10.1007/s10072-018-3682-x
Abstract: Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been… read more here.
Keywords: italian recommendations; diagnosis management; congenital myasthenic; cms ... 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 in Turkey: clinical and genetic features in the long-term follow-up of patients
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01246-9
Abstract: Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of defects in the structure and in the function of neuromuscular junctions. Molecular genetic diagnosis is important to select the most suitable therapeutic… read more here.
Keywords: congenital myasthenic; treatment; colq; gene ... 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
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.07.009
Abstract: GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its precise impact on… read more here.
Keywords: long term; congenital myasthenic; treatment; treatment pyridostigmine ... See more keywords
Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.08.362
Abstract: Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of genetic disorders of the neuromuscular junction. Next generation sequencing has been increasingly used for molecular diagnosis in CMS patients. This study aimed to identify the disease-causing… read more here.
Keywords: syndromes thai; diagnosis cms; thai population; congenital myasthenic ... See more keywords
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.11.012
Abstract: ALG2 mutations are extremely rare causes of congenital myasthenic syndromes (CMS). The clinical phenotype and treatment response is therefore not well described. We present the case of a baby who immediately after birth presented with… read more here.
Keywords: alg2 mutation; congenital myasthenic; pathogenic alg2; case ... See more keywords