Novel Variants Broaden the Phenotypic Spectrum of PLEKHG5‐associated Neuropathies

Zhongbo Chen,Reza Maroofian,A. Nazli Basak,Leena Shingavi,Mert Karakaya,Stephanie Efthymiou,Emil K. Gustavsson, Leyla Meier,Kiran Polavarapu,Seena Vengalil,Veeramani Preethish-Kumar,Bevinahalli N. Nandeesh,Nalan Gokce Gunes,Onur Akan,Fatma Candan,Bertold Schrank,Stephan Zuchner,David Murphy,Mahima Kapoor,Mina Ryten,Brunhilde Wirth,Mary M. Reilly,Atchayaram Nalini,Henry Houlden,Payam Sarraf

European Journal of Neurology（2020）

Cited 5|Views53
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Key words
Charcot&#8208,Marie&#8208,Tooth disease,genotype&#8211,phenotype association,hereditary motor neuropathy,hereditary sensory and motor neuropathy,peripheral nerve disease,spinal muscular atrophy
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