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Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation

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  • Funding Supported by grant number N401 049238 from the Polish Ministry of Science and Higher Education.

  • Contributors JS: clinical diagnosis and follow-up examinations, concept and manuscript preparation; BK: coordination of laboratory tests (muscle, genetics), manuscript preparation; EB, KT, AK: DNA examinations, manuscript preparation; AK: coordination, muscle biopsy and examination, manuscript preparation; MS: clinical assessments, manuscript preparations; EJS: neuropsychological examinations and manuscript preparation; HK: study coordinator, clinical assessments and manuscript preparation.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval As the case was examined during the normal clinical process and we did not perform any experimental therapies or unusual examinations, we did not apply for ethics committee approval.

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