RYR1 causing distal myopathy.

Ruple S LaughlinZhiyv NiuEric WiebenMargherita Milone

Published in: Molecular genetics & genomic medicine (2017)

We expand the spectrum of RYR1-related myopathy with the description of a novel phenotype in an adult patient presenting with hand weakness and suggest considering RYR1 analysis in the diagnosis of distal myopathies.

Keyphrases

late onset
case report
minimally invasive
muscular dystrophy
early onset
myasthenia gravis