POLGI Mutations in Infantile Hepatocerebral Syndromes

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-19-4-2

Keywords:

POLGI Mutations, Hypotonia, Mitochondrial DNA

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 Children’s Hospital, Florence; University of Verona; University Hospital, Monza, Italy; and University Children’s Hospital, Hamburg, Germany.

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Published

2005-04-01

Issue

Vol 19, No 04 | Apr 2005

Section

Metabolic Disorders

License

Copyright (c) 2005 The Author(s)

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