Article
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
European journal of neurology - 1 Apr 2021
Chen Zhongbo, Maroofian Reza, Başak A Nazlı, Shingavi Leena, Karakaya Mert, Efthymiou Stephanie, Gustavsson Emil K, Meier Leyla, Polavarapu Kiran, Vengalil Seena, Preethish-Kumar Veeramani, Nandeesh Bevinahalli N, Gökçe Güneş Nalan, Akan Onur, Candan Fatma, Schrank Bertold, Zuchner Stephan, Murphy David, Kapoor Mahima, Ryten Mina, Wirth Brunhilde, Reilly Mary M, Nalini Atchayaram, Houlden Henry, Sarraf Payam
Abstract excerpt
BACKGROUND AND PURPOSE: Pathogenic variants in PLEKHG5 have been reported to date to be causative in three unrelated families with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMT) and in one consanguineous family with spinal muscular atrophy (SMA). PLEKHG5 is known to be expressed in the human peripheral nervous system, and previous studies have shown its function in axon terminal autophagy of...
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