Dominant collagen XII mutations cause a distal myopathy.

Payam MohasselTeerin LiewluckYing HuDaniel EzzoTracy OgataDimah SaadeSarah NeuhausVéronique BolducYaqun ZouSandra DonkervoortLivija MedneCharlotte J SumnerP James B DyckKlaas J WierengaGihan TennekoonRichard S FinkelJiani ChenThomas L WinderNathan P StaffA Reghan FoleyManuel KochCarsten G Bönnemann

Published in: Annals of clinical and translational neurology (2019)

This study characterizes a distal myopathy phenotype in adults with dominant COL12A1 pathogenic variants, further defining the phenotypic spectrum and natural history of COL12A1-related myopathies. This work also provides proof of concept of a precision medicine treatment approach by proposing and validating allele-specific knockdown using siRNAs specifically designed to target a patient's dominant COL12A1 disease allele.

Keyphrases

late onset
minimally invasive
copy number
muscular dystrophy
early onset
genome wide
replacement therapy
tissue engineering
drug induced