POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
The c.2447G>A (p.R722H) mutation in the gene POLG1 of the catalytic subunit of human mitochondrial polymerase gamma has been previously found in a few occasions but its pathogenicity has remained uncertain. We set out to ascertain its contribution to neuromuscular disease.
Probands from two families with probable mitochondrial disease were exami...
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Full title
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype
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TN_cdi_doaj_primary_oai_doaj_org_article_4c15666123f94dbeac2df6024cd4325e
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4c15666123f94dbeac2df6024cd4325e
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ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/1471-2377-10-29
