Zobrazeno 1 - 10
of 1 591
pro vyhledávání: '"Congenital myasthenic syndrome"'
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. Mutation points in the SLC5A7 gene differ among individuals and encompass various genetic variations; however, exon deletion variants have yet to b
Externí odkaz:
https://doaj.org/article/f74abba589974f0ba785b2df91349a77
Autor:
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsib
Externí odkaz:
https://doaj.org/article/0c457896fc3643a7a402678d0e4d1664
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Ruchen Zhang, Paniz Farshadyeganeh, Bisei Ohkawara, Kazuki Nakajima, Jun-ichi Takeda, Mikako Ito, Shaochuan Zhang, Yuki Miyasaka, Tamio Ohno, Madoka Mori-Yoshimura, Akio Masuda, Kinji Ohno
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 8 (2024)
Externí odkaz:
https://doaj.org/article/dd1d6d2ad7d74c9db299f98aace79c6f
Autor:
Benjamin T. Cocanougher, Samuel W. Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling, David G. Jackson, Kristen L. Deak, Chi D. Hornik, Mai K. ElMallah, Carolyn E. Pizoli, Edward C. Smith, Khoon Ghee Queenie Tan, Marie T. McDonald
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100288- (2024)
Summary: Biallelic loss-of-function variants in the MUSK gene result in two allelic disorders: (1) congenital myasthenic syndrome (CMS; OMIM: 616325), a neuromuscular disorder that has a range of severity from severe neonatal-onset weakness to mild a
Externí odkaz:
https://doaj.org/article/62fbd441e8164dd983e840f993fde9d1
Autor:
Parag R. Maheshkar, Koustubh Bavdhankar, Neeraj Jain, Rishikesh Joshi, Santosh Sriram Andugulapati
Publikováno v:
Romanian Journal of Neurology, Vol 22, Iss 4, Pp 320-323 (2023)
Objective. To describe clinical characteristics, genetic details and management of patients of congenital myasthenic syndrome. Methods. A retrospective study was carried out from 2020 to 2023. Patient who presented with ptosis, ophthalmoplegia, proxi
Externí odkaz:
https://doaj.org/article/18dc210878cf4da79f980b2b96afd333
Autor:
Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O’Connor, Daniel O’Neil, Andreas Roos, Sally Spendiff, Hanns Lochmüller
Publikováno v:
Biomolecules, Vol 14, Iss 10, p 1252 (2024)
The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35 known causative genes cause impai
Externí odkaz:
https://doaj.org/article/e5f54fce7e5a4e9f9e07f148b2265675
Autor:
Zhiping Zhang, Xueluo Zhang, Huiqin Xue, Liming Chu, Lina Hu, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, Jiayao Chen, Xiangrong Cui, Lingyin Kong, Bo Liang, Xueqing Wu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
Abstract Background Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%–27% of all CMS cases. Whether preimplantati
Externí odkaz:
https://doaj.org/article/c274cddcd5f54fd8a9429ea51de76c54
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 4, Pp 324-326 (2023)
Abstract 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. Patient description Our patient was determ
Externí odkaz:
https://doaj.org/article/3c9fd21c62474b34b5e0786dcc66e747
Autor:
Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with musc
Externí odkaz:
https://doaj.org/article/9a7624574df34854837d3f4281fc3dae