Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.

Daniel G CalameJawid FatihIsabella HermanZeynep Coban AkdemirHaowei DuShalini N JhangianiRichard A GibbsDana MarafiDavut PehlivanJennifer E PoseyTimothy LotzePedro ManciasMeenakshi Bidwai BhattacharjeeJames R. Lupski

Published in: Neurology. Genetics (2021)

This report provides further evidence for the association of biallelic TNNT3 variants with severe recessive congenital myopathy with or without nemaline rods and distal arthrogryposis. TNNT3 sequencing and copy number analysis should be incorporated into the workup of congenital myopathies.

Keyphrases

copy number
mitochondrial dna
intellectual disability
genome wide
late onset
muscular dystrophy
dna methylation
autism spectrum disorder
early onset
single cell
gene expression
myasthenia gravis
duchenne muscular dystrophy