MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Roberta TeleseSerena PagliaraniAlberto LerarioPatrizia CiscatoGigliola FagiolariDenise CassandriniNadia GrimoldiGiorgio ConteClaudia CinnanteFilippo M SantorelliGiacomo P ComiMonica SciaccoLorenzo Peverelli

Published in: Molecular genetics & genomic medicine (2020)

This report contributes to expand the clinical and genetic spectrum of MYH2 myopathies and to increase the awareness of these very rare diseases.

Keyphrases

hypertrophic cardiomyopathy
late onset
muscular dystrophy
copy number
duchenne muscular dystrophy
myasthenia gravis