Neuromuscular disease presentation with three genetic defects involving two genomes

Neuromuscular Disorders

Volumn 19, Issue 12, 2009, Pages 841-844

  Al Dosary, Mazhor ^a   Whittaker, Roger G ^a   Haughton, Joanna ^b   McFarland, Robert ^a   Goodship, Judith ^c   Turnbull, Douglass M ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Mitochondrial DNA; PEO; Segregation; Single fibre analysis; tRNA mutation

Indexed keywords

ALLOPURINOL; COLCHICINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MITOCHONDRIAL DNA; MITOCHONDRIAL TRANSFER RNA; PERIPHERAL MYELIN PROTEIN 22; PROSTAGLANDIN SYNTHASE; TRANSFER RNA; UNCLASSIFIED DRUG;

ACUTE KIDNEY FAILURE; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DEMYELINATING NEUROPATHY; GENE DUPLICATION; GOUT; HUMAN; MALE; MISSENSE MUTATION; MITOCHONDRIAL GENOME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROMUSCULAR DISEASE; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PTOSIS; SEQUENCE ANALYSIS; WALKING DIFFICULTY;

ADULT; ELECTRON TRANSPORT COMPLEX IV; GENE DUPLICATION; GENES, X-LINKED; GENOME, HUMAN; GENOME, MITOCHONDRIAL; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MALE; MUSCLE, SKELETAL; MYELIN PROTEINS; NEUROMUSCULAR DISEASES; PHENOTYPE; RNA, TRANSFER, AMINO ACYL;

EID: 70449532999     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.10.001     Document Type: Article

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