Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families

Two families with spinocerebellar ataxia type 7 are presented. Although there are affected cousins, it is not the sibling parents that transmitted the mutation. It is assumed that the affected families share a common ancestor.

Detalles Bibliográficos
Autores principales: Zaheer, Fariha, Fee, Dominic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026847/
https://www.ncbi.nlm.nih.gov/pubmed/24883214
http://dx.doi.org/10.1155/2014/514791
_version_ 1782316910558314496
author Zaheer, Fariha
Fee, Dominic
author_facet Zaheer, Fariha
Fee, Dominic
author_sort Zaheer, Fariha
collection PubMed
description Two families with spinocerebellar ataxia type 7 are presented. Although there are affected cousins, it is not the sibling parents that transmitted the mutation. It is assumed that the affected families share a common ancestor.
format Online
Article
Text
id pubmed-4026847
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-40268472014-06-01 Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families Zaheer, Fariha Fee, Dominic Case Rep Neurol Med Case Report Two families with spinocerebellar ataxia type 7 are presented. Although there are affected cousins, it is not the sibling parents that transmitted the mutation. It is assumed that the affected families share a common ancestor. Hindawi Publishing Corporation 2014 2014-05-04 /pmc/articles/PMC4026847/ /pubmed/24883214 http://dx.doi.org/10.1155/2014/514791 Text en Copyright © 2014 F. Zaheer and D. Fee. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Zaheer, Fariha
Fee, Dominic
Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families
title Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families
title_full Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families
title_fullStr Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families
title_full_unstemmed Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families
title_short Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families
title_sort spinocerebellar ataxia 7: a report of unaffected siblings who married into different sca 7 families
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026847/
https://www.ncbi.nlm.nih.gov/pubmed/24883214
http://dx.doi.org/10.1155/2014/514791
work_keys_str_mv AT zaheerfariha spinocerebellarataxia7areportofunaffectedsiblingswhomarriedintodifferentsca7families
AT feedominic spinocerebellarataxia7areportofunaffectedsiblingswhomarriedintodifferentsca7families

Ejemplares similares