Lu sur :https://www.ncbi.nlm.nih.gov/pubmed/30124556
[hr][/hr]
Traduction disponible directement en cliquant en bas à droite de ce message sur l'expression Traduire en
[hr][/hr]
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Selvam P1, Arunachal G1, Danda S1, Chapla A2, Sivadasan A3, Alexander M3, Thomas MM3, Thomas NJ2.
J Clin Neuromuscul Dis. 2018 Sep;20(1):14-27. 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 patients.
- RESULTS:
We found clinically significant variants in 18 patients, of which variants in CHRNE were the most common, and 9 were novel. A common pathogenic COLQ variant was also detected in 4 patients with isolated limb-girdle congenital myasthenia.
- CONCLUSIONS:
Targeted screening of 5 genes is an effective alternate test for CMS, and an affordable one even in a developing country such as India. In addition, we recommend that patients with isolated limb-girdle congenital myasthenia be screened initially for the common COLQ pathogenic variant. This study throws the first light on the genetic landscape of CMSs in India
Message d' un membre de l'équipe technique |
Pour les utilisateurs d'I-phone ci-dessous le lien vers Google Trad https://translate.google.fr/translate?h ... 2F30124556 |
Message d' un membre de l'équipe technique |
Nous utilisons des services automatiques de traduction fournis par Yandex ou Google. Soyez vigilant sur le risque de contre-sens inhérent à ce genre d'outils. |