Diagnosis of mitochondrial myopathies

Molecular Genetics and Metabolism

Volumn 110, Issue 1-2, 2013, Pages 35-41

  Milone, Margherita ^a   Wong, Lee Jun ^b  

^a MAYO CLINIC   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Mitochondrial DNA; Mitochondrial myopathy; Molecular diagnosis; NGS diagnosis of mitochondrial disorders; Oxidative phosphorylation; Progressive external ophthalmoplegia

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; CARNITINE; CELL NUCLEUS DNA; CREATINE; CREATINE PHOSPHATE; CYSTEINE; CYTOCHROME B; CYTOCHROME C OXIDASE; DICHLOROACETIC ACID; DIMETHYLGLYCINE; HELICASE; MITOCHONDRIAL DNA; PHOSPHATE; RIBONUCLEOTIDE REDUCTASE; THIOCTIC ACID; UBIQUINOL CYTOCHROME C REDUCTASE; VALPROIC ACID;

AUTOSOMAL RECESSIVE DISORDER; CHEMICAL ANALYSIS; CLINICAL FEATURE; CLINICAL STUDY; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROMYOGRAPHY; ENERGY METABOLISM; EXERCISE TEST; FATIGUE; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC COUNSELING; HEART OUTPUT; HETEROPLASMY; HUMAN; MELAS SYNDROME; MITOCHONDRIAL GENOME; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL TOXICITY; MOLECULAR DIAGNOSIS; MULTIPLEX POLYMERASE CHAIN REACTION; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYOGLOBINURIA; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OXIDATIVE PHOSPHORYLATION; PATIENT CARE; PERIPHERAL NEUROPATHY; PHENOTYPE; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW; RHABDOMYOLYSIS; SOMATIC MUTATION; SOUTHERN BLOTTING; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; METABOLISM; MITOCHONDRIAL MYOPATHIES; MITOCHONDRION; MOLECULAR PATHOLOGY; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PATHOLOGY; SKELETAL MUSCLE;

DNA, MITOCHONDRIAL; ENERGY METABOLISM; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; OXIDATIVE PHOSPHORYLATION; PATHOLOGY, MOLECULAR;

EID: 84882860218     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.007     Document Type: Review

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