A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).

Malena P PantouPolyxeni GourziAggeliki GkouzioutaIakovos ArmenisLoukas KaklamanisChristianna ZygouriPantelis ConstantoulakisStamatis AdamopoulosDimitrios Degiannis

Published in: BMC medical genetics (2019)

These observations point to a recessive mode of inheritance reported for the first time for this combination of gene/disease.

Keyphrases

intellectual disability
muscular dystrophy
mitochondrial dna
copy number
heart failure
genome wide
autism spectrum disorder
genome wide identification
dna methylation
duchenne muscular dystrophy