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Mutation detection in an equivocal case of Friedreich's ataxia.
Pediatr Neurol. 2000 May; 22(5):413-5.PN

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 approximately 1,000 repeats on one allele and a novel initiation codon point mutation (3G-->A) on the other.

Authors+Show Affiliations

Developmental and Genetic Center, University of Tennessee Medical Center, Knoxville, Tennessee 37920, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10913738

Citation

Potter, N T., et al. "Mutation Detection in an Equivocal Case of Friedreich's Ataxia." Pediatric Neurology, vol. 22, no. 5, 2000, pp. 413-5.
Potter NT, Miller CA, Anderson IJ. Mutation detection in an equivocal case of Friedreich's ataxia. Pediatr Neurol. 2000;22(5):413-5.
Potter, N. T., Miller, C. A., & Anderson, I. J. (2000). Mutation detection in an equivocal case of Friedreich's ataxia. Pediatric Neurology, 22(5), 413-5.
Potter NT, Miller CA, Anderson IJ. Mutation Detection in an Equivocal Case of Friedreich's Ataxia. Pediatr Neurol. 2000;22(5):413-5. PubMed PMID: 10913738.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation detection in an equivocal case of Friedreich's ataxia. AU - Potter,N T, AU - Miller,C A, AU - Anderson,I J, PY - 2000/7/29/pubmed PY - 2000/8/29/medline PY - 2000/7/29/entrez SP - 413 EP - 5 JF - Pediatric neurology JO - Pediatr Neurol VL - 22 IS - 5 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 approximately 1,000 repeats on one allele and a novel initiation codon point mutation (3G-->A) on the other. SN - 0887-8994 UR - https://www.unboundmedicine.com/medline/citation/10913738/Mutation_detection_in_an_equivocal_case_of_Friedreich's_ataxia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887899400001363 DB - PRIME DP - Unbound Medicine ER -