Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Baiba LaceIeva MiculeViktorija KeninaSigne SetlereJurgis StrautmanisInese KazaineGita TaurinaDaiga MurmaneIeva GrinfeldeLiene KornejevaZita KruminaOlga SternaIlze Radovica-SpalvinaInta VasiljevaLinda GailiteJanis StavusisDiana LivcaneDita KidereIeva MalnieceInna Inashkina

Published in: Neurology. Genetics (2022)

gene variant c.2680C>T p.(Arg894Ter) is 2.11%, and consequently, congenital myotonia is the most frequent NMD in our population.

Keyphrases

genome wide
copy number
gene expression
dna methylation
genome wide identification