Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice

Neuromuscular Disorders

Volumn 22, Issue 7, 2012, Pages 577-586

  Pitceathly, R D S ^a   Rahman, S ^a,b,c   Hanna, M G ^a,d  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Mitochondrial disease; Mitochondrial DNA; Single deletion

Indexed keywords

CREATINE; DICHLOROACETIC ACID; DOUBLE STRANDED DNA; MITOCHONDRIAL DNA; SINGLE STRANDED DNA; UBIDECARENONE;

AEROBIC EXERCISE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CLINICAL PRACTICE; DIAGNOSTIC TEST; DIET THERAPY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DOUBLE STRANDED DNA BREAK; ENZYMOLOGY; EXERCISE; GENE DELETION; GENETIC ASSOCIATION; GENETIC DISORDER; HEALTH PROGRAM; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; INHERITANCE; KEARNS SAYRE SYNDROME; MITOCHONDRIAL DNA REPLICATION; MOLECULAR BIOLOGY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCUPATIONAL THERAPY; ORTHOTICS; PEARSON SYNDROME; PHENOTYPE; PHYSIOTHERAPY; POPULATION GENETICS; PRIORITY JOURNAL; QUALITY OF LIFE; RESISTANCE TRAINING; RESPIRATORY CHAIN; REVIEW;

DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL DISEASES; MODELS, MOLECULAR; PHENOTYPE; SEQUENCE DELETION;

EID: 84862219784     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.03.009     Document Type: Review

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