Results 91 to 100 of about 2,996 (188)

Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair

, 2013
The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia.
Pavone V, Pavone P, Falsaperla R, Praticò AD   +3 more
core   +1 more source

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker

Frontiers in Genetics
This report outlines the case of a child affected by a type of congenital disorder of glycosylation (CDG) known as ALG2-CDG (OMIM 607906), presenting as a congenital myasthenic syndrome (CMS) caused by variants identified in ALG2, which encodes an α1,3 ...
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, Wasantha Ranatunga, Earnest James Paul Daniel, Mario E. Cruz Muñoz, Melania Abreu, Héctor Mora-Montes, Miao He, Eva Morava, Gildardo Zafra de la Rosa   +10 more
doaj   +1 more source

The phenotypic presentation of individuals with specific gene-related congenital myasthenic syndromes: a scoping review protocol

A scoping review will be conducted to identify body function and structure impairments, activity limitations, and participation restrictions present in individuals with congenital myasthenic syndromes (CMS), specifically related to the following genes ...
Elizabeth Angelevski, Cynthia Gagnon
core   +1 more source

Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review

Heliyon
Background: SCN4A mutations account for a diverse array of clinical manifestations, encompassing periodic paralysis, myotonia, and newly recognized symptoms like classical congenital myopathy or congenital myasthenic syndromes.
Ji Yoon Han, Joonhong Park
doaj   +1 more source

Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations. [PDF]

Curr Neuropharmacol, 2023
Shao S, Shi G, Bi FF, Huang K.
europepmc   +1 more source

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

Orphanet Journal of Rare Diseases
Background Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate.
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi   +7 more
doaj   +1 more source

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies. [PDF]

J Clin Med, 2023
Muñoz-García MI, Guerrero-Molina MP, de Fuenmayor-Fernández de la Hoz CP, Bermejo-Guerrero L, Arteche-López A, Hernández-Laín A, Martín MA, Domínguez-González C.   +7 more
europepmc   +1 more source

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review. [PDF]

Int J Mol Sci, 2023
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG.   +4 more
europepmc   +1 more source

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study. [PDF]

J Neurol, 2023
Krenn M, Sener M, Rath J, Zulehner G, Keritam O, Wagner M, Laccone F, Iglseder S, Marte S, Baumgartner M, Eisenkölbl A, Liechtenstein C, Rudnik S, Quasthoff S, Grinzinger S, Spenger J, Wortmann SB, Löscher WN, Zimprich F, Kellersmann A, Rappold M, Bernert G, Freilinger M, Cetin H.   +23 more
europepmc   +1 more source

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models. [PDF]

J Neuromuscul Dis, 2023
Pugliese A, Holland SH, Rodolico C, Lochmüller H, Spendiff S.   +4 more
europepmc   +1 more source