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Article

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Journal of medical genetics - 1 Dec 2017

Legati Andrea, Reyes Aurelio, Ceccatelli Berti Camilla, Stehling Oliver, Marchet Silvia, Lamperti Costanza, Ferrari Alberto, Robinson Alan J, Mühlenhoff Ulrich, Lill Roland, Zeviani Massimo, Goffrini Paola, Ghezzi Daniele

Abstract excerpt

BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has...

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Source

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Identifiers

PMID: 29079705
DOI: 10.1136/jmedgenet-2017-104822
PMCID: PMC5740555

Genes

ISCU

Variants

Provenance

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