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Article

Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2012

Vasta Valeria, Merritt J Lawrence, Saneto Russell P, Hahn Si Houn

Abstract excerpt

BACKGROUND: The current diagnostic approach for mitochondrial disorders requires invasive procedures such as muscle biopsy and multiple biochemical testing but the results are often inconclusive. Clinical sequencing tests are available only for a limited number of genes. Recently, massively parallel sequencing has become a powerful tool for testing genetically heterogeneous conditions such as mitochondrial...

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Child, Preschool
Child
Electron Transport
High-Throughput Nucleotide Sequencing
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Mitochondrial Diseases

Sequence Analysis, DNA

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Identifiers

PMID: 22494076
DOI: 10.1111/j.1442-200X.2012.03644.x

Genes

CPT2
MTO1
PDSS1
POLG
SDHD
SURF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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