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Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.

Marie SubrévilleNathalie Bonello-PalotDouniazed YahiaouiSadia Beloribi-DjefafliaSara FernandesTanya StojkovicJulien CassereauYann PéréonAndoni Echaniz-LagunaMarie-Hélène ViolleauAntoine SoulagesSarah Léonard LouisMarion MasingueArmelle MagotEmilien DelmontSabrina SacconiDavid AdamsCéline LabeyrieSteeve GenestetJean-Baptiste NouryJean-Baptiste ChansonNicolas LévyRaul Juntas-MoralesCéline TardGuilhem SoleShahram Attarian
Published in: European journal of neurology (2021)
To optimize the selection of CMT patients carrying MPZ mutations for the upcoming trials, inclusion criteria should take into account the pathophysiology of the disease (upregulated UPR). Recruited patients should have a mild to moderate disease severity and a disease onset at between 18 and 50 years, as these patients exhibit significant disease progression over time.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • peritoneal dialysis
  • multiple sclerosis
  • patient reported outcomes
  • copy number
  • patient reported