Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.

CONCLUSION: The c.1064+1G > A splice-site change mutation, defined for the first time in this study, expands the spectrum of mutations in the CLCN1 gene. Thomsen type and female gender were observed to be more frequent in this series of patients from Turkey. PMID: 32558419 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/32558419?dopt=Abstract

Source: The Turkish Journal of Pediatrics - June 20, 2020 Category: Pediatrics Authors: Özgün N, Taşlıdere H Tags: Turk J Pediatr Source Type: research