Report of a novel ATP7A mutation causing distal motor neuropathy.

Francesca Gualandi,Elisabetta Sette,Fernanda Fortunato,Stefania Bigoni,Domenico De Grandis,Chiara Scotton,Rita Selvatici,Marcella Neri,Alex Incensi,Rocco Liguori,Markus Storbeck,Mert Karakaya,Valentina Simioni,Stefano Squarzoni,Vincent Timmerman,Brunhilde Wirth,Vincenzo Donadio,Valeria Tugnoli,Alessandra Ferlini

Neuromuscular Disorders（2019）

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摘要

•A novel missense mutation (p.A991D) identified by NGS in the X-linked ATP7A gene.•Novel phenotype with distal motor neuropathy and dysautonomia.•Refinement of ATP7A genotype-phenotype correlations.

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关键词

ATP7A mutation,Peripheral neuropathy,Autonomic neuropathy

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