Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype-Reference-Cited by-同舟云学术

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

Published:2015-06-16 Issue:7 Volume:168 Page:573-585
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Krause Amanda¹²,Mitchell Claire¹,Essop Fahmida¹²,Tager Susan³⁴,Temlett James³⁵,Stevanin Giovanni⁶⁷,Ross Christopher⁸,Rudnicki Dobrila⁹,Margolis Russell¹⁰

Affiliation:

1. Division of Human Genetics; National Health Laboratory Service; Johannesburg South Africa

2. Division of Human Genetics; School of Pathology; Faculty of Health Sciences; University of the Witwatersrand; Johannesburg South Africa

3. Department of Neurology; University of the Witwatersrand; Johannesburg South Africa

4. Donald Gordon Medical Centre; Johannesburg South Africa

5. Department Clinical Neurology; University of Adelaide and the Royal Adelaide Hospital; Adelaide Australia

6. Sorbonne Universités; UPMC Univ Paris; Institut du Cerveau et de la Moelle épinière; Paris France

7. Ecole Pratique des Hautes Etudes; Paris France

8. Johns Hopkins University School of Medicine; Departments of Psychiatry; Neurology; Neuroscience, and Pharmacology and Molecular Sciences and Program in Cellular and Molecular Medicine; Baltimore Maryland

9. Johns Hopkins University School of Medicine; Departments of Psychiatry and Program in Cellular and Molecular Medicine; Baltimore Maryland

10. Johns Hopkins University School of Medicine; Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine; Baltimore Maryland

Funder

National Institutes of Health

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics(clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.b.32332/fullpdf

Reference63 articles.

1. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease;Andrew;Nat Genet,1993

2. Huntington disease without CAG expansion: Phenocopies or errors in assignment?;Andrew;Am J Hum Genet,1994

3. Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes;Baine;Eur J Hum Genet,2013