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Article

Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease.

Neuromuscular disorders : NMD - 1 Aug 2021

Villar-Quiles Rocio-Nur, Le Van Thuy, Leonard-Louis Sarah, Trang Nguyen Thi, Huong Nguyen Thi, Laddada Lilia, Francou Bruno, Maisonobe Thierry, Azzedine Hamid, Stojkovic Tanya

Abstract excerpt

Biallelic variants in PLEKHG5 have been reported so far associated with different clinical phenotypes including Lower motor neuron disease (LMND) [also known as distal hereditary motor neuropathies (dHMN or HMN) or distal spinal muscular atrophy (DSMA4)] and intermediate Charcot-Marie-Tooth disease (CMT). We report four patients from two families presenting with intermediate CMT and atypical clinical and...

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PMID: 34244018
DOI: 10.1016/j.nmd.2021.06.004

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