Distal myopathy with cachexia: An unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 1, 2013, Pages 107-110

  Pitceathly, Robert D S ^a   Tomlinson, Susan E ^a,b   Hargreaves, Iain ^a   Bhardwaj, Nisha ^c   Holton, Janice L ^a,d   Morrow, Jasper M ^a   Evans, Julie ^e   Smith, Conrad ^e   Fratter, Carl ^e   Woodward, Cathy E ^a   Sweeney, Mary G ^a   Rahman, Shamima ^a,c   Hanna, Michael G ^a,d  

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

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CREATINE KINASE; DNA DIRECTED DNA POLYMERASE GAMMA; GUANINE; HISTIDINE; LEUCINE; MITOCHONDRIAL DNA; THYMINE; TYROSINE;

ADULT; ARM MUSCLE; ARTICLE; CACHEXIA; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISTAL MYOPATHY; DNA EXTRACTION; DOMINANT INHERITANCE; ELECTROMYOGRAPHY; GENE; GENE LOCATION; GENE REARRANGEMENT; GENETIC CONSERVATION; HETEROZYGOSITY; HUMAN; LABORATORY TEST; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; OPHTHALMOPLEGIA; PHENOTYPE; POLG GENE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

EID: 84871198802     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-303232     Document Type: Article

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