Article
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
Journal of the peripheral nervous system : JPNS - 1 Jun 2024
Xu Isaac R L, Danzi Matt C, Ruiz Ariel, Raposo Jacquelyn, De Jesus Yeisha Arcia, Reilly Mary M, Cortese Andrea, Shy Michael E, Scherer Steven S, Herrmann David N, Fridman Vera, Baets Jonathan, Saporta Mario, Seyedsadjadi Reza, Stojkovic Tanya, Claeys Kristl G, Patel Pooja, Feely Shawna, Rebelo Adriana P, Dohrn Maike F, Züchner Stephan
Abstract excerpt
BACKGROUND: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets. In...
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