Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman

Neuroendocrinology Letters

Volumn 26, Issue 1, 2005, Pages 71-74

  Zumrová, Alena ^a   Mazanec, Radim ^a   Vyhnálek, Martin ^a   Křepelová, Anna ^a   Mušová, Zuzana ^a   Krilová, Stefanie ^a   Appltová, Ludmila ^a   Havlovicová, Markéta ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

Coexistence; FMR1 premutation; Fragile X premutation tremor ataxia syndrome; Repeats disorders; Very late onset Friedreich ataxia

Indexed keywords

ADENINE; CYTOSINE; DNA; FRAGILE X MENTAL RETARDATION PROTEIN; FRIEDREICH ATAXIA PROTEIN; GUANINE; NUCLEIC ACID BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; ATAXIA; CASE REPORT; COMORBIDITY; DNA DETERMINATION; FAMILY HISTORY; FEMALE; FRIEDREICH ATAXIA; GENE MUTATION; HETEROZYGOSITY; HUMAN; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; SYMPTOM; TRINUCLEOTIDE REPEAT;

EID: 15444377230     PISSN: 0172780X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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