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MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

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  • Contributors TK conceived the study, obtained the research fund and drafted the manuscript. KY and RO helped with the genetic experiments. YO, NT, AM, CB and HN performed the electrophysiological and neurosonographical studies. RM, YN and YI performed follow-up evaluations and coordinated the clinical studies. LP and AO performed the mutation surveillance in Italian patients and critical revision of the manuscript. AH, YH and HT co-ordinated the genetic experiments, including the experiment using a GeneChip CustomSeq Resequencing Array, and performed critical revision of the manuscript. RK obtained the research funding and provided study supervision. All the authors read and approved the final manuscript.

  • Funding This work was supported by the Japan Society for the Promotion of Science (JSPS KAKENHI Grant number 26461294 to TK), the Ministry of Health, Labour, and Welfare of Japan (Grants for Evidence-based Early Diagnosis and Treatment Strategies for Neuroimmunological Diseases to RK), the Intramural Research Grant (25-4) for Neurological and Psychiatric Disorders of the National Centre of Neurology and Psychiatry (NCNP), Japan (Grant to HN and RK), the Research programme for conquering intractable disease (Grant to HT), and Grant-in-Aid for Research on Rare and Intractable Diseases, the Research Committee on Establishment of Novel Treatments for Amyotrophic Lateral Sclerosis (Grant to TK, RM, RO, YI and RK) from the Japan Agency for Medical Research and development, AMED, the Italian Ministero della Salute (Grant number GR09.109 to AO), and a grant from the Università di Roma ‘Tor Vergata’, Rome, Italy (Grant number E82I15000190005 to AO). KY is a recipient of a scholarship for medical students, provided by Tokushima Prefecture. CB is supported by the Fujii-Otsuka International Education and Research Exchange Fund.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Ethics approval Approved by the Institutional Review Boards (IRBs) of the Tokushima University Hospital, as well as local IRBs of the referring institutions.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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