Mutation detection in an equivocal case of Friedreich's ataxia

Nicholas Potter, Christopher A. Miller, Ilse J. Anderson

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Compound heterozygosity at the Friedreich's ataxia locus accounts for approximately 2% of molecularly confirmed cases. Genotype-phenotype correlation in this subgroup of patients reveals a spectrum of clinical variability. This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of ~1,000 repeats on one allele and a novel initiation codon point mutation (3G→A) on the other. Copyright (C) 2000 Elsevier Science Inc.

Original languageEnglish (US)
Pages (from-to)413-415
Number of pages3
JournalPediatric Neurology
Volume22
Issue number5
DOIs
StatePublished - May 1 2000
Externally publishedYes

Fingerprint

Friedreich Ataxia
Mutation
Initiator Codon
Genetic Association Studies
Point Mutation
Alleles

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Mutation detection in an equivocal case of Friedreich's ataxia. / Potter, Nicholas; Miller, Christopher A.; Anderson, Ilse J.

In: Pediatric Neurology, Vol. 22, No. 5, 01.05.2000, p. 413-415.

Research output: Contribution to journalArticle

Potter, Nicholas ; Miller, Christopher A. ; Anderson, Ilse J. / Mutation detection in an equivocal case of Friedreich's ataxia. In: Pediatric Neurology. 2000 ; Vol. 22, No. 5. pp. 413-415.
@article{b99c9319a2d24980a31e4a411eac00f7,
title = "Mutation detection in an equivocal case of Friedreich's ataxia",
abstract = "Compound heterozygosity at the Friedreich's ataxia locus accounts for approximately 2{\%} of molecularly confirmed cases. Genotype-phenotype correlation in this subgroup of patients reveals a spectrum of clinical variability. This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of ~1,000 repeats on one allele and a novel initiation codon point mutation (3G→A) on the other. Copyright (C) 2000 Elsevier Science Inc.",
author = "Nicholas Potter and Miller, {Christopher A.} and Anderson, {Ilse J.}",
year = "2000",
month = "5",
day = "1",
doi = "10.1016/S0887-8994(00)00136-3",
language = "English (US)",
volume = "22",
pages = "413--415",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "5",

}

TY - JOUR

T1 - Mutation detection in an equivocal case of Friedreich's ataxia

AU - Potter, Nicholas

AU - Miller, Christopher A.

AU - Anderson, Ilse J.

PY - 2000/5/1

Y1 - 2000/5/1

N2 - Compound heterozygosity at the Friedreich's ataxia locus accounts for approximately 2% of molecularly confirmed cases. Genotype-phenotype correlation in this subgroup of patients reveals a spectrum of clinical variability. This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of ~1,000 repeats on one allele and a novel initiation codon point mutation (3G→A) on the other. Copyright (C) 2000 Elsevier Science Inc.

AB - Compound heterozygosity at the Friedreich's ataxia locus accounts for approximately 2% of molecularly confirmed cases. Genotype-phenotype correlation in this subgroup of patients reveals a spectrum of clinical variability. This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of ~1,000 repeats on one allele and a novel initiation codon point mutation (3G→A) on the other. Copyright (C) 2000 Elsevier Science Inc.

UR - http://www.scopus.com/inward/record.url?scp=0034046427&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034046427&partnerID=8YFLogxK

U2 - 10.1016/S0887-8994(00)00136-3

DO - 10.1016/S0887-8994(00)00136-3

M3 - Article

VL - 22

SP - 413

EP - 415

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

IS - 5

ER -