Titin copy number variations associated with dominant inherited phenotypes.

Aurélien PerrinCorinne MétayMarco SavareseRabah Ben YaouGerman DemidovIsabelle NelsonGuilhem SoléYann PéréonEnrico Silvio BertiniFabiana FattoriAdele D'AmicoFederica RicciMira GinsbergAndreea SeferianOdile Boespflug-TanguyLaurent ServaisFrançoise ChaponEmmeline LagrangeKaren GaudonAdrien BlochRobin GhanemLucie Guyant-MaréchalMridul JohariCharles Van GoethemMichel FardeauRaul Juntas MoralesCasie A GenettiMinttu MarttilaMichel KoenigAlan BeggsBjarne UddGisèle BonneMireille Cossee

Published in: Journal of medical genetics (2023)

gene, with unexpected autosomal dominant transmission. This is valuable in establishing new genotype-phenotype associations of titinopathies, mainly distal myopathy in most of the patients.

Keyphrases

copy number
mitochondrial dna
genome wide
end stage renal disease
chronic kidney disease
minimally invasive
late onset
gene expression
patient reported outcomes
muscular dystrophy