CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions
2019 ◽
Vol 2019
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pp. 1-4
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Keyword(s):
The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion. Later, it has been shown that the mutations in the same gene may present with adult-onset mitochondrial myopathy and mitochondrial DNA multiple deletions in skeletal muscle. Here we report the case of a 42-year-old Italian woman presenting with a chronic progressive external ophthalmoplegia and myopathy with mtDNA multiple deletions and the compound heterozygous c.462T>A (p.Asn154Lys) and c.707+2T>G pathogenic variants in DGUOK.
2016 ◽
Vol 263
(7)
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pp. 1449-1451
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2005 ◽
Vol 43
(2)
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pp. 333-341
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1991 ◽
Vol 102
(1)
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pp. 92-99
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1997 ◽
Vol 4
(2)
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pp. 163-168
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