Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy
European Journal of Neurology2021Vol. 28(9), pp. 2913–2921
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Marie Subréville, Nathalie Bonello‐Palot, Douniazed Yahiaoui, Sadia Beloribi‐Djefaflia, Sara Silva Fernandes, Tanya Stojkovic, Julien Cassereau, Yann Péréon, Andoni Echaniz‐Laguna, Marie‐Hélène Violleau, Antoine Soulages, Sarah Louis, Marion Masingue, Armelle Magot, Émilien Delmont, Sabrina Sacconi, David Adams, Céline Labeyrie, Steeve Genestet, Jean‐Baptiste Noury, Jean‐Baptiste Chanson, Nicolas Lévy, Raúl Juntas‐Morales, Céline Tard, Guilhem Solé, Shahram Attarian
Abstract
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.
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