Disease: Myopathy mitochondrial cataract
- <em>POLG</em>-Related Disorders
- A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome
- A MELAS syndrome family harboring two mutations in mitochondrial genome
- A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
- A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract
- A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy
- A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance
- A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease
- A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease
- A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis
- Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria
- Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome
- AGK regulates the progression to NASH by affecting mitochondria complex I function
- An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Anesthesia for eye operations in mitochondrial encephalomyelopathy
- Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report
- Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism
- Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8
- Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
- Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome
- Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report
- Cardiac transplantation for hypertrophic cardiomyopathy associated with Sengers syndrome
- Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions
- Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
- Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
- Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
- Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
- Complex mitochondriopathy associated with 4 mtDNA transitions
- Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion
- Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome
- COXPD9 in an individual from Puerto Rico and literature review
- CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation
- CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation
- Dominant optic atrophy
- Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies
- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
- External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation
- Familial mitochondrial myopathy with cataract
- Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy
- Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy
- Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
- Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
- General anaesthesia in a man with mitochondrial myopathy undergoing eye surgery
- Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis
- Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract
- Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome
- Kearns Sayre Syndrome--case report with review of literature
- Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
- Lady in red: A case of Kearns-Sayre syndrome supported by histopathology
- Long term follow-up in two siblings with Sengers syndrome: Case report
- Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype
- Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
- Metals and neuroscience
- Mitochondrial complex I-linked disease
- Mitochondrial disorders with significant ophthalmic manifestations
- Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications
- Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy
- Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
- Mitochondrial myopathy with autosomal dominant inheritance--report of a family and review of the literature
- Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema
- Mitochondriopathies
- Mouse models for mitochondrial disease
- Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change
- Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy
- Myopathy in Marinesco-Sjogren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology
- Neuroradiologic findings in Sengers syndrome
- Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation
- Ophthalmologic findings in patients with ataxia
- Other autosomal recessive and childhood ataxias
- Oxidative phosphorylation defect associated with primary adrenal insufficiency
- Peripheral ocular motor disorders
- Phenotypic spectrum of <em>SLC25A4</em> mutations
- Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant
- Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA<sup>Lys</sup> (m.8340G>A) gene variant
- Ptosis Correction
- Ptosis Correction
- Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease
- Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy
- Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation
- Sengers disease: a rare association of hypertrophic cardiomyopathy and congenital cataracts
- Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
- Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex
- Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report
- Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
- Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy
- Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a <em>TCF4</em> Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
- SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human
- SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder
- Small heat shock proteins: Role in cellular functions and pathology
- Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy
- Syndrome of mitochondrial myopathy of the heart and skeletal muscle, congenital cataract and lactic acidosis
- Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome
- The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease
- The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency
- The mitochondrial myopathies: 9 case reports and a literature review
- The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis
- The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism
- Transmitochondrial mice: proof of principle and promises
- Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy