Zellweger syndrome and secondary mitochondrial myopathy
Abstract
Defects in peroxisomes such as those associated with Zellweger syndrome (ZS) can influence diverse intracellular metabolic pathways, including mitochondrial functioning. We report on an 8-month-old female infant and a 6-month-old female infant with typical clinical, radiological and laboratory features of Zellweger syndrome; light microscopic and ultrastructural evidence of mitochondrial pathology in their muscle biopsies; and homozygous...
Paper Details
Title
Zellweger syndrome and secondary mitochondrial myopathy
Published Date
Oct 7, 2014
Volume
174
Issue
4
Pages
557 - 563
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