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'mtDNA': [97], 'revealed': [99], 'a': [100, 122, 151, 160, 164], 'pathogenic': [101], 'heteroplasmic': [102], 'mutation': [103, 162], 'm.13046T>C': [104, 161], 'in': [105, 121, 139, 163, 173, 209], 'MTND5': [106, 198], 'encoding': [107], 'ND5': [109], 'subunit': [110], 'complex': [112, 199], 'I.': [113, 200], 'This': [114], 'particular': [115], 'variant': [116], 'has': [117], 'previously': [118], 'been': [119, 184], 'described': [120], 'single': [123], 'case': [124], 'report': [125], 'MELAS/Leigh': [127], 'syndrome': [128, 157], '(subacute': [129], 'necrotizing': [130], 'encephalopathy).': [131], 'Based': [132], 'on': [133], 'constellation': [135], 'clinical': [137, 203], 'symptoms': [138], 'our': [140], 'patient,': [141], 'we': [142], 'diagnose': [143], 'condition': [145], 'as': [146], 'LHON/MELAS': [147, 155], 'overlap': [148, 156], 'syndrome.We': [149], 'describe': [150], 'unique': [152], 'presentation': [153], 'resulting': [158], 'from': [159], 'girl.': [166], 'In': [167], 'patients': [168], 'sudden': [170], 'vision': [171], 'which': [174], 'prevalent': [179], 'mutations': [182], 'have': [183], 'ruled': [185], 'out,': [186], 'molecular': [187], 'should': [190], 'be': [191, 206], 'extended': [192], 'to': [193], 'other': [194], 'mtDNA-encoded': [195], 'subunits': [196], 'Furthermore,': [201], 'atypical': [202], 'presentations': [204], 'must': [205], 'considered,': [207], 'even': [208], 'well-described': [210], 'phenotypes.': [211]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2288347868', 'counts_by_year': [{'year': 2022, 'cited_by_count': 2}, {'year': 2020, 'cited_by_count': 2}, {'year': 2019, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 5}, {'year': 2017, 'cited_by_count': 1}], 'updated_date': '2024-09-11T17:08:25.404212', 'created_date': '2016-06-24'}