Article
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
The Journal of clinical investigation - 1 Dec 2025
Dominik Natalia, Efthymiou Stephanie, Record Christopher J, Miao Xinyu, Lin Renee Q, Parmar Jevin M, Scardamaglia Annarita, Maroofian Reza, Lowe Simon A, Aughey Gabriel N, Wilson Abigail D, Curro Riccardo, Schnekenberg Ricardo P, Alavi Shahryar, Leclaire Leif, He Yi, Zhelcheska Kristina, Bellaïche Yohanns, Gaugué Isabelle, Skorupinska Mariola, Van de Vondel Liedewei, Da'as Sahar I, Turchetti Valentina, Güngör Serdal, Monahan Gavin V, Ghayoor Karimiani Ehsan, Jamshidi Yalda, Lamont Phillipa J, Armirola-Ricaurte Camila, Topaloglu Haluk, Jordanova Albena, Zaman Mashaya, Banu Selina H, Marques Wilson, Tomaselli Pedro J, Aynekin Busra, Cansu Ali, Per Huseyin, Güleç Ayten, Alvi Javeria Raza, Sultan Tipu, Khan Arif, Zifarelli Giovanni, Ibrahim Shahnaz, Mancini Grazia M S, Motazacker M M, Brusse Esther, Lupo Vincenzo, Sevilla Teresa, Başak A Nazli, Tekgul Seyma, Palvadeau Robin J, Baets Jonathan, Parman Yesim, Çakar Arman, Horvath Rita, Haack Tobias B, Stahl Jan-Hendrik, Grundmann-Hauser Kathrin, Park Joohyun, Zuchner Stephan, Laing Nigel G, Wilson Lindsay A, Rossor Alexander M, Polke James, Figueiredo Fernanda Barbosa, Pessoa André, Kok Fernando, Coimbra-Neto Antônio Rodrigues, Franca Marcondes C, Ravenscroft Gianina, Hamed Sherifa A, Chung Wendy K, Pittman Alan M, Osborn Daniel P, Hanna Michael, Cortese Andrea, Reilly Mary M, Jepson James Ec, Lamarche-Vane Nathalie, Houlden Henry
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of hereditary neuropathies. Despite progress in genetic sequencing, for around a quarter of patients the disease has lacked a genetic explanation. Here, we identified 16 recessive variants in the RhoGTPase activating protein 19 gene (ARHGAP19) causing motor-predominant neuropathy in 25 individuals from 20 unrelated families. The...
Read the complete abstract on PubMed