MLH1 deficiency leads to deregulated mitochondrial metabolism
نویسندگان
چکیده
منابع مشابه
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency☆
Multiple respiratory chain deficiencies represent a common cause of mitochondrial diseases and are associated with a wide range of clinical symptoms. We report a subject, born to consanguineous parents, with growth retardation and neurological deterioration. Multiple respiratory chain deficiency was found in muscle and fibroblasts of the subject as well as abnormal assembly of complexes I and I...
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ژورنال
عنوان ژورنال: Cell Death & Disease
سال: 2019
ISSN: 2041-4889
DOI: 10.1038/s41419-019-2018-y