"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2)

Journal of Neurology

Volumn 255, Issue 4, 2008, Pages 495-501

  Schols L ^a   Arning, L ^b   Schule R ^a   Epplen, J T ^b   Timmann, D ^c  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

ALS4; Ataxia; Dermatofibrosarcoma protuberans; Ocular apraxia; Peripheral neuropathy

Indexed keywords

ALPHA FETOPROTEIN;

ADULT; AGED; ALLELE; APRAXIA; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLUM ATROPHY; CLINICAL ARTICLE; DOMINANT INHERITANCE; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ANALYSIS; HAND MUSCLE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEG MUSCLE; MALE; MUSCLE ATROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SETX GENE; STRABISMUS;

EID: 42549106475     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0707-z     Document Type: Article

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