Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.

Autor: Sharifi Z; Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Taheri M; Urogenital Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Fallah MS; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Abiri M; Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran., Golnabi F; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Bagherian H; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Zeinali R; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Farahzadi H; Proteomics Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alborji M; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Tehrani PG; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Amini M; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Asnavandi S; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran., Hashemi M; Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Forouzesh F; Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran., Zeinali S; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran. zeinali@gmail.com.; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran. zeinali@gmail.com.

Publikováno v: Journal of molecular neuroscience : MN [J Mol Neurosci] 2021 Nov; Vol. 71 (11), pp. 2281-2298. Date of Electronic Publication: 2021 Jan 22.

Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).

Autor: Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Johannsen J; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Matschke J; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Song F; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Altmeppen HC; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Publikováno v: Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1224-1233. Date of Electronic Publication: 2022 May 11.