Associated Papers
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report.
Beijer D et al.
Journal of Neuromuscular Diseases, 2022
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Chen Z et al.
European Journal of Neurology, 2021
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H et al.
Human Molecular Genetics, 2013
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