Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

Neurology

Volumn 64, Issue 2, 2005, Pages 371-373

  Hudson, G ^a   Deschauer, M ^b   Busse, K ^c   Zierz, S ^b   Chinnery, P F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^c MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN ATROPHY; C10ORF2 GENE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DEMENTIA; DYSARTHRIA; EPILEPTIC STATE; FEMALE; GAIT DISORDER; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MOSAICISM; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; PEDIGREE ANALYSIS; PHENOTYPE; POLG1 GENE; PRIORITY JOURNAL; PTOSIS; SENSORY ATAXIC NEUROPATHY; SENSORY NEUROPATHY; SEQUENCE ALIGNMENT; SOUTHERN BLOTTING;

EID: 12544249406     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000149767.51152.83     Document Type: Article

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