{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:26Z","timestamp":1777857026366,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2022,3,1]]},"abstract":"<jats:p>Mutations in PLEKHG5, a pleckstrin homology domain containing member of the GEF family, are associated with distal spinal muscular atrophy and intermediate Charcot-Marie-Tooth disease. Here, we describe an isolated case with distal intermediate neuropathy with scapular winging. By whole exome sequencing, we identified the homozygous PLEKHG5 Arg97Gln missense mutation, located in the N-terminal region of the protein. This mutation resides between a zinc-finger motif and a RBD domain, involved in binding rnd3, a RhoA effector protein. We conclude that based on the characteristic phenotype presented by the patient and the supportive genetic findings, the PLEKHG5 mutation is the causative variant.<\/jats:p>","DOI":"10.3233\/jnd-210716","type":"journal-article","created":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T14:19:20Z","timestamp":1638886760000},"page":"347-351","source":"Crossref","is-referenced-by-count":1,"title":["Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report"],"prefix":"10.1177","volume":"9","author":[{"given":"Danique","family":"Beijer","sequence":"first","affiliation":[{"name":"Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veeramani","family":"Preethish-Kumar","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mainak","family":"Bardhan","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maike F.","family":"Dohrn","sequence":"additional","affiliation":[{"name":"Dr. John T. 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