Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.

Nawale Hadouiri Quentin ThomasVéronique DarmencyVéronique DulieuMarie-Gabrielle Mourot De RougemontAnge-Line BruelYannis DuffourdFrançois LecoquierreBenoit ColombStéphanie Perez-MartinPaul OrnettiOlivier BlanchardArthur SorlinChristophe PhilippeLaurence FaivreAntonio VitobelloChristel Thauvin-Robinet

Published in: Clinical genetics (2021)

Keyphrases

muscular dystrophy
duchenne muscular dystrophy
copy number
gene expression
intellectual disability