Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.
FXN gene
Friedreich ataxia
Mali
West Africa
genetic epidemiology
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
14
02
2021
accepted:
07
03
2021
entrez:
4
6
2021
pubmed:
5
6
2021
medline:
5
6
2021
Statut:
epublish
Résumé
Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.
Identifiants
pubmed: 34084490
doi: 10.1002/ccr3.4065
pii: CCR34065
pmc: PMC8142306
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e04065Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG007044
Pays : United States
Informations de copyright
© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
None declared.
Références
Pediatr Neurol. 2003 May;28(5):335-41
pubmed: 12878293
Science. 1996 Mar 8;271(5254):1423-7
pubmed: 8596916
World J Cardiol. 2019 Jan 26;11(1):1-12
pubmed: 30705738
Heart. 1999 Feb;81(2):141-7
pubmed: 9922348
S Afr Med J. 2016 May 25;106(6 Suppl 1):S38-41
pubmed: 27245522