Pediatric Neurology Briefs
Published 2005 | Version v1.0.0
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POLGI Mutations in Infantile Hepatocerebral Syndromes

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Abstract

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 National Institute of Neurology, Milano; Meyer Childrens Hospital, Florence; University of Verona; University Hospital, Monza, Italy; and University Childrens Hospital, Hamburg, Germany.

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PNB-19-26

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Created
2005
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