Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Hugh J McmillanAren E MarshallSunita VenkateswaranTaila HartleyJodi Warman-ChardonArun K RamaniChristian R MarshallJean MichaudKym M BoycottDavid A DymentKristin D KernohanPublished in: Clinical genetics (2021)