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GP224 Multisystem mitochondrial diseases in children with maternally inherited complex I deficiency

GP224 Multisystem mitochondrial diseases in children with maternally inherited complex I deficiency

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2239162234

GP224 Multisystem mitochondrial diseases in children with maternally inherited complex I deficiency

About this item

Full title

GP224 Multisystem mitochondrial diseases in children with maternally inherited complex I deficiency

Publisher

London: BMJ Publishing Group LTD

Journal title

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A121

Language

English

Formats

Publication information

Publisher

London: BMJ Publishing Group LTD

More information

Scope and Contents

Contents

Mitochondrial disorders (MD) in childhood represent a heterogeneous group of disease. The most common cause of MD is respiratory chain complex I (CI) deficiency, which may be caused by mutations in either nuclear or the mitochondrial DNA (mtDNA). In the cohort of 106 unrelated families with mtDNA mutations from our region with 10,5 million of inhab...

Alternative Titles

Full title

GP224 Multisystem mitochondrial diseases in children with maternally inherited complex I deficiency

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2239162234

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2239162234

Other Identifiers

ISSN

0003-9888

E-ISSN

1468-2044

DOI

10.1136/archdischild-2019-epa.283

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