{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:12:32Z","timestamp":1777857152877,"version":"3.51.4"},"reference-count":0,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:p>Background: Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties. Objective: Here we describe 4 patients with the classical Behr's syndrome phenotype from 3 unrelated families who carry homozygous nonsense mutations in the C12orf65 gene encoding a protein involved in mitochondrial translation. Methods: Whole exome sequencing was performed in genomic DNA and oxygen consumption was measured in patient cell lines. Results: We detected 2 different homozygous C12orf65 nonsense mutations in 4 patients with a homogeneous clinical presentation matching the historical description of Behr's syndrome. The first symptom in all patients was childhood-onset optic atrophy, followed by spastic paraparesis, distal weakness, motor neuropathy and ophthalmoparesis. Conclusions: We think that C12orf65 mutations are more frequent than previously suggested and screening of this gene should be considered not only in patients with mitochondrial respiratory chain deficiencies, but also in inherited peripheral neuropathies, spastic paraplegias and ataxias, especially with pre-existing optic atrophy.<\/jats:p>","DOI":"10.3233\/jnd-140003","type":"journal-article","created":{"date-parts":[[2019,12,3]],"date-time":"2019-12-03T11:05:54Z","timestamp":1575371154000},"page":"55-63","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":25,"title":["Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene"],"prefix":"10.1177","volume":"1","author":[{"given":"Angela","family":"Pyle","sequence":"first","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Venkateswaran","family":"Ramesh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Trust, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Bartsakoulia","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronika","family":"Boczonadi","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurora","family":"Gomez-Duran","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes","family":"Herczegfalvi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Semmelweis University, Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma L.","family":"Blakely","sequence":"additional","affiliation":[{"name":"Wellcome Trust Mitochondrial Research Centre, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Smertenko","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Duff","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail","family":"Eglon","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Moore","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Yu Wai Man","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Douroudis","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Santibanez-Koref","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Griffin","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronika","family":"Karcagi","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Diagnostics, NIEH, Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Wellcome Trust Mitochondrial Research Centre, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick F.","family":"Chinnery","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,1,1]]},"container-title":["Journal of Neuromuscular 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