The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

Neuromuscular Disorders

Volumn 20, Issue 6, 2010, Pages 403-406

  Alston, Charlotte L ^a   Bender, Andreas ^b   Hargreaves, Iain P ^c   Mundy, Helen ^d   Deshpande, Charulata ^d   Klopstock, Thomas ^b   McFarland, Robert ^a   Horvath, Rita ^a   Taylor Robert W , R W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

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

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

CPEO; M.3243; Mitochondrial DNA; Pathogenicity; Single fibres

Indexed keywords

ADENOSINE; GENOMIC DNA; LACTIC ACID; MITOCHONDRIAL DNA; PROSTAGLANDIN SYNTHASE; THYMINE; TRANSFER RNA;

ADULT; ANAMNESIS; ARTICLE; BASAL GANGLION; BRAIN CALCIFICATION; CASE REPORT; CATARACT; CAUDATE NUCLEUS; CEREBROSPINAL FLUID ANALYSIS; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; COCHLEA PROSTHESIS; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORNEA; DENTATE NUCLEUS; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; GENE SEGREGATION; GENETIC ASSOCIATION; GROWTH HORMONE DEFICIENCY; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; HYPERMETROPIA; KERATITIS; LIPID STORAGE; MALE; MITOCHONDRIAL DNA DISORDER; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PARIETAL LOBE; PATHOGENICITY; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; PUTAMEN; RECURRENT DISEASE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHORT STATURE; VISUAL IMPAIRMENT; WHITE MATTER; BRAIN DISEASES; DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILY; GENETICS; IMMUNOHISTOCHEMISTRY; LACTIC ACIDOSIS; MUTATION; NEUROLOGIC DISEASE; OPHTHALMOPLEGIA; PATHOLOGY; PHENOTYPE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; YOUNG ADULT;

ACIDOSIS, LACTIC; ADULT; BRAIN DISEASES; DNA, MITOCHONDRIAL; FAMILY; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MITOCHONDRIAL DISEASES; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUTATION; NERVOUS SYSTEM DISEASES; OPHTHALMOPLEGIA; PHENOTYPE; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 77953123660     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.04.003     Document Type: Article

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