Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

Journal of Neurology Neurosurgery and Psychiatry

Volumn 68, Issue 5, 2000, Pages 661-664

  McCormack, Melissa L ^a   Guttmann, Rodney P ^a   Schumann, Matthew ^a   Farmer, Jennifer M ^b   Stolle, Catherine A ^b   Campuzano, Victoria ^c   Koenig, Michel ^c   Lynch, David R ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Diabetes; Neurogenetics; Optic neuropathy

Indexed keywords

FRATAXIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; FRIEDREICH ATAXIA; HUMAN; MALE; MUSCLE BIOPSY; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; DNA MUTATIONAL ANALYSIS; FRIEDREICH ATAXIA; HUMANS; IMMUNOHISTOCHEMISTRY; IRON-BINDING PROTEINS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POINT MUTATION; TRINUCLEOTIDE REPEATS;

EID: 0034066598     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.68.5.661     Document Type: Article

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