Results 31 to 40 of about 2,996 (188)

Congenital myasthenic Syndromes [PDF]

Archives of Neurology, 1999
Abstract Congenital myasthenic syndromes (CMS) are neither new nor uncommon disorders. In 1937, Rothbart described four brothers under the age of 2 years with a myasthenic disorder, and by 1972 Sarah Bundey was able to collect 97 familial cases of myasthenia with onset before the age of 2 years.
A.G. Engel, K. Ohno, A.A. Stans
openaire   +3 more sources

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
doaj   +1 more source

Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis

Arquivos de Neuro-Psiquiatria, 2021
Background: Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG). Objective: The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a ...
Paulo José Lorenzoni, Renata Dal-Pra Ducci, Raquel Cristina Arndt, Nyvia Milicio Coblinski Hrysay, Otto Jesus Hernandez Fustes, Ana Töpf, Hanns Lochmüller, Lineu Cesar Werneck, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola   +9 more
doaj   +1 more source

Congenital myasthenic syndromes (CMS) a rare cause of uncommon fatigue

Journal of Education, Health and Sport, 2022
Introduction and purpose: Muscle weakness in newborns, infants and young children can be caused by disorders of the neuromuscular junction (NMJ). Congenital myasthenic syndromes (CMS) are a group of rare genetic diseases whose symptoms resemble the ...
Jan Lejman, Kinga Panuciak, Emilia Nowicka, Angelika Mastalerczyk, Karolina Makowska, Michał Obel, Kamila Czyżak, Wiktor Wiśniewski   +7 more
doaj   +1 more source

Congenital myasthenic syndromes - the current state of knowledge

, 2022
Wrodzone zespoły miasteniczne (ang. congenital myasthenic syndromes-CMS) to rzadkie choroby złącza nerwowo-mięśniowego uwarunkowane genetycznie. Objawy mogą występować od okresu prenatalnego do dorosłości, najczęściej pojawiają się w pierwszych dwóch ...
Nowacka-Gotowiec, Monika, Kotulska-Jóźwiak, Katarzyna   +1 more
core   +1 more source

Congenital myasthenic syndrome type 2C in a neonate: Redefining the phenotype of CHRNB1‐related myasthenic syndromes

Annals of the Child Neurology Society, 2023
Objective We present a neonate with generalized weakness due to autosomal recessive congenital myasthenic syndrome type 2C (CMS2C) resulting from a compound heterozygous mutation in the CHRNB1 gene.
Zurisadai Gonzalez, Simon Kayyal, Neda Zadeh, Julian Thomas   +3 more
doaj   +1 more source

High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays. [PDF]

PLoS ONE, 2007
The use of resequencing microarrays for screening multiple, candidate disease loci is a promising alternative to conventional capillary sequencing. We describe the performance of a custom resequencing microarray for mutational analysis of Congenital ...
Lisa Denning, Jennifer A Anderson, Ryan Davis, Jeffrey P Gregg, Jennifer Kuzdenyi, Ricardo A Maselli   +5 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

Stem Cell Research, 2020
Congenital myasthenic syndromes (CMS) are a class of inherited disorders affecting the neuromuscular junction, a synapse whose activity is essential for movement. CMS with acetylcholinesterase (AChE) deficiency are caused by mutations in COLQ, a collagen
Susie Barbeau, Romain Desprat, Bruno Eymard, Cécile Martinat, Jean-Marc Lemaitre, Claire Legay   +5 more
doaj   +1 more source

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation

Neurobiology of Disease, 2012
We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mutation L221F into the ε subunit of the acetylcholine receptor by homologous recombination.
Frédéric Chevessier, Christoph Peter, Ulrike Mersdorf, Emmanuelle Girard, Eric Krejci, Joseph J. McArdle, Veit Witzemann   +6 more
doaj   +1 more source

Congenital myasthenic syndromes: Natural history and long-term prognosis

Annals of Indian Academy of Neurology, 2013
Introduction: Congenital myasthenia syndrome (CMS) is a rare, heterogeneous group of genetically determined, disorder of neuromuscular transmission. They have a varied presentation and progression and very few studies have addressed the natural history ...
Sujit Abajirao Jagtap, Kuruvilla Abraham, C Sarada, M D Nair   +3 more
doaj   +1 more source