Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.

Simone SampaoloFilomena NapolitanoAlfonsina TirozziMafalda Giovanna RecciaLuca LombardiOlimpia FarinaAdriano BarraFerdinando CirilloMariarosa Anna Beatrice MeloneFernando GianfrancescoGiuseppe Di IorioTeresa Esposito

Published in: Journal of medical genetics (2017)

This is the first report of a disease phenotype associated with LAMA5 mutation in humans.

Keyphrases

extracellular matrix
muscular dystrophy
oxidative stress
gene expression
genome wide identification