POLGI Mutations in Infantile Hepatocerebral Syndromes

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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Bibliographic Details
Main Author: J Gordon Millichap
Format: Article
Language:English
Published: Pediatric Neurology Briefs Publishers 2005-04-01
Series:Pediatric Neurology Briefs
Subjects:
polgi mutations
hypotonia
mitochondrial dna
Online Access:https://www.pediatricneurologybriefs.com/articles/1292
Description
Summary: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 Children’s Hospital, Florence; University of Verona; University Hospital, Monza, Italy; and University Children’s Hospital, Hamburg, Germany.
ISSN:1043-3155
2166-6482

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