Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia

Pediatr Neurol. 2017 Oct:75:96-97. doi: 10.1016/j.pediatrneurol.2017.06.012. Epub 2017 Jun 27.

Authors

Robert C Stowe¹, Sonika Agarwal²

Affiliations

¹ Department of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas. Electronic address: stowe@bcm.edu.
² Division of Neurology, Nemours A.I. duPont Hospital for Children, Wilmington, Delaware. Electronic address: Sonika.Agarwal@nemours.org.

PMID: 28823628
DOI: 10.1016/j.pediatrneurol.2017.06.012

No abstract available

Publication types

Case Reports

MeSH terms

DNA Mutational Analysis
Exome
Humans
Infant
Male
Membrane Proteins / genetics*
Muscle Hypotonia / etiology
Muscle Hypotonia / genetics*
Mutation*
Zellweger Syndrome / complications
Zellweger Syndrome / genetics*

Substances

Membrane Proteins
PEX26 protein, human