ANO10 mutations cause ataxia and coenzyme Q10 deficiency
ANO10 mutations cause ataxia and coenzyme Q10 deficiency
About this item
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Author / Creator
Balreira, Andrea , Boczonadi, Veronika , Barca, Emanuele , Pyle, Angela , Bansagi, Boglarka , Appleton, Marie , Graham, Claire , Hargreaves, Iain P. , Rasic, Vedrana Milic , Lochmüller, Hanns , Griffin, Helen , Taylor, Robert W. , Naini, Ali , Chinnery, Patrick F. , Hirano, Michio , Quinzii, Catarina M. and Horvath, Rita
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with...
Alternative Titles
Full title
ANO10 mutations cause ataxia and coenzyme Q10 deficiency
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4221650
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4221650
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-014-7476-7
