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Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in <jats:italic>PLEKHG5<\/jats:italic> have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported <jats:italic>PLEKHG5<\/jats:italic> mutations. Our results confirm and extend previous findings linking <jats:italic>PLEKHG5<\/jats:italic> mutations to lower motor neuron diseases.<\/jats:p>","DOI":"10.1002\/acn3.51265","type":"journal-article","created":{"date-parts":[[2020,12,4]],"date-time":"2020-12-04T19:56:25Z","timestamp":1607111785000},"page":"294-299","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel <i>PLEKHG5<\/i> mutations in a patient with childhood\u2010onset lower motor neuron disease"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0715-6414","authenticated-orcid":false,"given":"Lidia","family":"Gonzalez\u2010Quereda","sequence":"first","affiliation":[{"name":"Genetics Department IIB Sant Pau, Hospital de Sant Pau Barcelona 08041 Spain"},{"name":"U705 CIBERER Instituto de Salud Carlos III Madrid 28029 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