Open AccessClonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
Author(s) -
Gráinne S. Gorman,
Gerald Pfeffer,
Helen Griffin,
Emma L. Blakely,
Marzena KurzawaAkanbi,
Jessica Gabriel,
Kamil S. Sitarz,
M. Roberts,
Benedikt Schoser,
Angela Pyle,
Andrew M. Schaefer,
Robert McFarland,
Douglass M. Turnbull,
Rita Horváth,
Patrick F. Chinnery,
Robert W. Taylor
Publication year - 2014
Publication title -
jama neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.298
H-Index - 231
eISSN - 2168-6157
pISSN - 2168-6149
DOI - 10.1001/jamaneurol.2014.1753
Subject(s) - spinocerebellar ataxia , biology , ataxia , mitochondrial dna , genetics , mutation , exome sequencing , mitochondrial disease , microbiology and biotechnology , gene , neuroscience
Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined.
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