Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Zhongbo ChenReza MaroofianA Nazlı BaşakLeena ShingaviMert KarakayaStephanie EfthymiouEmil Karl GustavssonLeyla MeierKiran PolavarapuSeena VengalilVeeramani Preethish-KumarBevinahalli N NandeeshNalan Gökçe GüneşOnur AkanFatma CandanBertold SchrankStephan ZuchnerDavid MurphyMahima KapoorMina RytenBrunhilde WirthMary M ReillyAtchayaram NaliniHenry HouldenPayam SarrafPublished in: European journal of neurology (2020)
PLEKHG5-associated neuropathies should be considered as an important differential in non-5q SMAs even in the presence of mild sensory impairment and a candidate causative gene for a wide range of hereditary neuropathies. We present this series of cases to further the understanding of the phenotypic and molecular spectrum of PLEKHG5-associated diseases.