The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
About this item
Full title
Author / Creator
Keshavan, Nandaki , Abdenur, Jose , Anderson, Glenn , Assouline, Zahra , Barcia, Giulia , Bouhikbar, Lamia , Chakrapani, Anupam , Cleary, Maureen , Cohen, Marta C. , Feillet, François , Fratter, Carl , Hauser, Natalie , Jacques, Tom , Lam, Amanda , McCullagh, Helen , Phadke, Rahul , Rötig, Agnès , Sharrard, Mark , Simon, Mariella , Smith, Conrad , Sommerville, Ewen W. , Taylor, Robert W. , Yue, Wyatt W. and Rahman, Shamima
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of
RRM2B
is an uncommon cause of infantile-onset encephalomyopathic MDDS. Here we describe the natural history of this disease.
Methods
Multinational series of new genetically confirmed cases from six pe...
Alternative Titles
Full title
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
Authors, Artists and Contributors
Author / Creator
Abdenur, Jose
Anderson, Glenn
Assouline, Zahra
Barcia, Giulia
Bouhikbar, Lamia
Chakrapani, Anupam
Cleary, Maureen
Cohen, Marta C.
Feillet, François
Fratter, Carl
Hauser, Natalie
Jacques, Tom
Lam, Amanda
McCullagh, Helen
Phadke, Rahul
Rötig, Agnès
Sharrard, Mark
Simon, Mariella
Smith, Conrad
Sommerville, Ewen W.
Taylor, Robert W.
Yue, Wyatt W.
Rahman, Shamima
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2282503698
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2282503698
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0613-z
