Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
Manuel SchiffCéline RodaMarie-Lorraine MoninAlina ArionMagali BarthNathalie BednarekMaud BidetCatherine BlochNathalie BoddaertDelphine BorgelAnaïs BrassierAlexis BriceArnaud BruneelRoger BuissonnièreBrigitte ChabrolMarie-Chantal ChevalierValérie Cormier-DaireClaire De BaraceEmmanuel De MaistreAnne De Saint-MartinNathalie DorisonValérie Drouin-GarraudThierry DupréBernard EchennePatrick EderyFrançois FeilletIsabelle FontanChristine FrancannetFrançois LabartheCyril GitiauxDelphine HéronMarie HullySylvie LamoureuxDominique Martin-CoignardCyril MignotGilles MorinTiffany PascreauOlivier PincemailleMichel PolakAgathe RoubertieChristel Thauvin-RobinetAnnick ToutainGéraldine ViotSandrine Vuillaumier-BarrotNathalie SetaPascale De LonlayPublished in: Journal of medical genetics (2017)
PMM2-CDG clinical phenotype is heterogeneous in terms of clinical course, with no clear division between neurological and visceral presentations.