POLGI Mutations in Infantile Hepatocerebral Syndromes
Nine patients, 2 sibling pairs and 5 singleton cases, with POLGI mutations associated with infantile fatal encephalopathy and hepatopathy, 8 having typical Alpers’ syndrome (Alpers’ hepatopathic poliodystrophy) and one a severe floppy infant syndrome with hepatic failure, are reported from the Natio...
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| Format: | Article |
| Language: | English |
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Pediatric Neurology Briefs Publishers
2005-04-01
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| Series: | Pediatric Neurology Briefs |
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| Online Access: | https://www.pediatricneurologybriefs.com/articles/1292 |