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Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency...

Base Sequence Cytochrome-c Oxidase Deficiency Diagnosis Differential Female Genotype Humans Infant Infant Newborn Male Mitochondria Mitochondrial Encephalomyopathies Molecular Biology Molecular Sequence Data Muscle Skeletal Nucleic Acid Conformation Pedigree Phenotype Point Mutation Prognosis

BACKGROUND: Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear...

Clinical genetics metabolic disorders Neuromuscular disease Neuroophthalmology Cardiomyopathy Hypertrophic Female GTP Phosphohydrolases Homozygote Humans Infant Mitochondrial Encephalomyopathies Muscle Skeletal Mutation Optic Atrophy Pregnancy

Massively parallel resequencing of mitochondrial DNA (mtDNA) has led to significant advances in the study of heteroplasmic mtDNA variants in health and disease, but confident resolution of very low-level variants (<2%...

Case-Control Studies DNA Mitochondrial High-Throughput Nucleotide Sequencing Humans Intestinal Pseudo-Obstruction Mitochondrial Encephalomyopathies Muscular Dystrophy Oculopharyngeal Mutation Nucleotide Motifs Ophthalmoplegia Sensitivity and Specificity

Alleles Animals Biopsy Cell Nucleus DNA Mitochondrial Gene Deletion Humans Mice Mitochondria Mitochondrial Encephalomyopathies Mutation Ophthalmoplegia Chronic Progressive External Phenotype Signal Transduction Syndrome

BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with gastrointestinal symptoms. Two sisters, initially managed for Crohn's disease based upon clinical, imaging and...

Azathioprine Crohn’s Disease inflammatory bowel disease Inherited mitochondrial disorders Leukoencephalopathy Mitochondrial neurogastrointestinal encephalopathy thymidine phosphorylase Adult Age of Onset Azathioprine Crohn Disease Deoxyuridine Diagnosis Differential Female Gastrointestinal Diseases Humans Mitochondrial Encephalomyopathies Phenotype Point Mutation Retrospective Studies Thymidine thymidine phosphorylase white matter

Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible...

Cell Line Cysteine Gene Expression Regulation Humans Mitochondria Mitochondrial Diseases Mitochondrial Encephalomyopathies Mitochondrial Proteins Muscle Skeletal Mutation Myoblasts Oxidative Phosphorylation Protein Biosynthesis RNA Transfer Thiouridine tRNA Methyltransferases

Adult Amino Acid Sequence Base Sequence Blotting Southern Blotting Western DNA Replication DNA Mitochondrial Female High-Throughput Nucleotide Sequencing Humans Male Middle Aged Mitochondrial Encephalomyopathies Molecular Sequence Data Mutation Ophthalmoplegia Chronic Progressive External Pedigree RNA Ribonuclease H