A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
نویسندگان
چکیده
منابع مشابه
A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case
Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus. Case Presentation: A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by W...
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Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form of colorectal cancer and an autosomal dominant inheri...
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Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2021
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2020.100699