Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report [PDF]
Journal of Medical Case Reports, 2022 Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome is a rare mitochondrial genetic disorder that can present with a variety of clinical manifestations, including stroke, hearing loss, seizures, and lactic ...
Ahmad F. Alenezi +3 more
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Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes [PDF]
Life, 2021 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity.
Hueng-Chuen Fan +3 more
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Subacute‐onset cataract in a 29‐year‐old man with mitochondrial encephalomyopathy: A case report [PDF]
Clinical Case ReportsKey Clinical Message This case report aims to emphasize that subacute occurrence of nuclear cataract might be one of the underestimated manifestations of mitochondrial encephalomyopathy, thus periodical ophthalmologic examinations are recommended.
Lu Chen +4 more
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TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy [PDF]
Orphanet Journal of Rare DiseasesBiallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia ...
Shujie Zhang +16 more
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Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling [PDF]
Brain and BehaviorIntroduction/Aims Mitochondrial encephalomyopathies are multisystem disorders caused by defects in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) syndrome is a rare manifestation ...
Fanjing Zhou +6 more
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Diagnostic challenges in mitochondrial encephalomyopathy with m.10158T>C mutation: a case report and literature review [PDF]
Frontiers in Integrative NeuroscienceMitochondrial encephalomyopathy is a complex disorder with heterogeneous clinical manifestations that often complicate its clinical diagnosis. We report the first documented case of a 52-year-old woman harboring a novel and rare genotypic combination ...
Zhuqing Luan, Zhigang Liang
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report [PDF]
Journal of Medical Case ReportsBackground Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and nemaline myopathy are two rare genetic conditions. We report the first case reported in world literature with coexistence of both these rare disorders.
Kawmadi Gunawardena +3 more
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Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene [PDF]
Frontiers in GeneticsBackgroundMitochondria adjust their shape in response to the different energetic and metabolic requirements of the cell, through extremely dynamic fusion and fission events.
Michela Di Nottia +17 more
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Gastrointestinal complications of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome managed by parenteral nutrition [PDF]
European Journal of Case Reports in Internal MedicineMELAS – an acronym for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes – is a multiorgan disease caused by a mutation in mitochondrial DNA (mtDNA).
Simona Horná +6 more
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A patient with MELAS syndrome combined with autoimmune abnormalities: a case report
Frontiers in Neurology, 2023 BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis ...
Mingmin Zhao +11 more
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