Linked Life Data

16816915

Source:http://linkedlifedata.com/resource/pubmed/id/16816915

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-7-3
pubmed:abstractText
Diagnostic evaluation of two sisters affected by ataxia, with similar age of onset, revealed a characteristic trinucleotide expansion in the Friedreich's ataxia (FRDA) locus and two different phenotypic presentations. At onset the elder sister had retained deep tendon reflexes (FARR), while the younger sister presented classic FRDA. The GAA expansion in the patients' alleles proved to be similar in both siblings, ruling out that age at onset and clinical heterogeneity could be due to different FRDA mutations. On the whole, clinical and genetic data on these patients confirmed that FARR is a variant phenotype of FRDA.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1590-1874
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
140-2
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Friedreich's ataxia: clinical heterogeneity in two sisters.
pubmed:affiliation
Department of Neurosciences, Second Neurological Clinic, S. Antonio Hospital, University of Padova, Via Facciolati 71, I-35100, Padova, Italy. mario.armani@unipd.it
pubmed:publicationType
Journal Article, Case Reports