Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Sandra DonkervoortPayam MohasselMelanie O'LearyDevon E BonnerTaila HartleyNicole AcquayeAstrid BrullTahseen MozaffarMario A Saporta David A DymentJacinda B SampsonSander PajusaluChristina Austin-TseKyle HurthJulie S CohenKirsty McWalterJodi Warman-ChardonAmy CrunkA Reghan Foleynull nullAndrew L MammenMatthew T WheelerAnne O'Donnell-LuriaCarsten G Bonnemann

Published in: Annals of clinical and translational neurology (2024)

This series further establishes ACTN2 as a muscle disease gene, now also including variants with a recessive inheritance mode, and expands the clinical spectrum of actinopathies to adult-onset progressive muscle disease.

Keyphrases

copy number
skeletal muscle
muscular dystrophy
intellectual disability
mitochondrial dna
multiple sclerosis
late onset
genome wide
gene expression
autism spectrum disorder
genome wide identification