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Article

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Human genetics - 1 Jan 2016

Shamseldin Hanan E, Smith Laura L, Kentab Amal, Alkhalidi Hisham, Summers Brady, Alsedairy Haifa, Xiong Yong, Gupta Vandana A, Alkuraya Fowzan S

Abstract excerpt

Myopathies are heterogeneous disorders characterized clinically by weakness and hypotonia, usually in the absence of gross dystrophic changes. Mitochondrial dysfunction is a frequent cause of myopathy. We report a simplex case born to consanguineous parents who presented with muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction. Combined autozygome and exome analysis...

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Identifiers

PMID: 26541337
DOI: 10.1007/s00439-015-1608-8
PMCID: PMC4900140

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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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