Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene

Neurology

Volumn 54, Issue 2, 2000, Pages 496-499

  De Michele, G ^c   Filla, Alessandro ^b   Cavalcanti, F ^a   Tammaro, A ^c   Monticelli, A ^c   Pianese, L ^c   Di Salle, F ^c   Perretti, A ^c   Santoro, L ^c   Caruso, G ^c   Cocozza, S ^c  

^a CNR   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c NONE

Author keywords

Friedreich ataxia; Missense mutation; Phenotype; X25 gene

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME ABERRATION;

EID: 17344377955     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.54.2.496     Document Type: Article

References (10)

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