A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilatera...
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment
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New York: Springer US
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Language
English
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New York: Springer US
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Contents
Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise CII and the assembly CII factor SDHAF1. We report an adolescent female who presented with global deve...
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Full title
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment
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TN_cdi_proquest_miscellaneous_2479423181
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2479423181
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ISSN
0885-7490
E-ISSN
1573-7365
DOI
10.1007/s11011-021-00671-1
