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Article

Zellweger syndrome and secondary mitochondrial myopathy.

European journal of pediatrics - 1 Apr 2015

Salpietro Vincenzo, Phadke Rahul, Saggar Anand, Hargreaves Iain P, Yates Robert, Fokoloros Christos, Mankad Kshitij, Hertecant Jozef, Ruggieri Martino, McCormick David, Kinali Maria

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25287621
DOI: 10.1007/s00431-014-2431-2

Genes

PEX16

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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