Biochemical and genetic studies in a family with mitochondrial myopathy

Muscle and Nerve

Volumn 20, Issue 10, 1997, Pages 1219-1224

  Heiman Patterson, Terry D ^a   Argov, Zohar ^b   Chavin, Jeffrey M ^a   Kalman, Bernadette ^a   Alder, Hansjuerg ^c   DiMauro, Salvatore ^d   Bank, William ^e   Tahmoush, Albert J ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d New York Presbyterian Hospital Columbia University Medical Center   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Magnetic resonance spectroscopy; Mitochondrial DNA mutations; Mitochondrial myopathy; Ragged red fibers; Respiratory chain defects

Indexed keywords

CYTOCHROME C OXIDASE; METHYLPREDNISOLONE; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; SUCCINATE DEHYDROGENASE; TRANSFER RNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTOCHEMISTRY; HUMAN; MALE; MITOCHONDRIAL MYOPATHY; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; STEROID THERAPY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; GENE REARRANGEMENT; GLUCOCORTICOIDS; HUMANS; MALE; METHYLPREDNISOLONE; MICROSCOPY, ELECTRON; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLES; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC;

EID: 0030875437     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199710)20:10<1219::AID-MUS2>3.0.CO;2-F     Document Type: Article

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