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A rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is an extremely rare multisystem disorder with autosomal recessive inheritance...
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ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy
Here we report the evaluation of the frequency of subjective and objective otolaryngologic findings and therapeutic results in 32 patients with...
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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
BackgroundMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome is a rare mitochondrial genetic disorder that can...
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General anesthesia with remimazolam in a patient with mitochondrial encephalomyopathy: a case report
BackgroundSystemic anesthetic management of patients with mitochondrial disease requires careful preoperative preparation to administer adequate...
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Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report
BackgroundMitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene,...
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Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile
ObjectiveMitochondrial myopathy without extraocular muscles involvement (MiMy) represents a distinct form of mitochondrial disorder predominantly...
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Genetics of Mitochondrial Cardiomyopathy
Purpose of ReviewPrimary mitochondrial disorders (PMD) are a heterogeneous group of individual genetic multi-systemic diseases that are challenging...
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Leber hereditary optic neuropathy and dystonia overlap** mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation
ObjectiveTo report a Chinese family with combined m.14459G>A mutation and m.6064A>T mutation of which the female proband presenting unique Leber...
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Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
BackgroundMitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative...
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Mitochondrial Genetics and Function as Determinants of Bone Phenotype and Aging
Purpose of ReviewThe purpose of this review is to summarize the recently published scientific literature regarding the effects of mitochondrial...
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Mitochondria and the eye—manifestations of mitochondrial diseases and their management
Historically, distinct mitochondrial syndromes were recognised clinically by their ocular features. Due to their predilection for metabolically...
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Mitochondrial heterogeneity in diseases
As key organelles involved in cellular metabolism, mitochondria frequently undergo adaptive changes in morphology, components and functions in...
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Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy
BackgroundMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene,...
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The evolution of the mitochondrial disease diagnostic odyssey
BackgroundMitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey,...
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Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications
We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal...
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The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence
BackgroundGenetic mitochondrial diseases represent a significant challenge to human health. These diseases are extraordinarily heterogeneous in...
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Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review
Migraine is a common condition in mitochondrial diseases, with a higher prevalence than in the general population. Although several clinical studies...
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AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives
Mitochondrial diseases are a group of rare, heterogeneous diseases caused by gene mutations in both nuclear and mitochondrial genomes that result in...
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Mitochondrial Replacement Therapy: An Islamic Perspective
Mitochondrial replacement technology (MRT) is an emerging and complex bioethical issue. This treatment aims to eliminate maternal inherited...
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Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges
The variable clinical and biochemical manifestations of primary mitochondrial diseases (PMDs), and the complexity of mitochondrial genetics, have...
