A novel de novo dominant mutation in <i>ISCU</i> associated with mitochondrial myopathy.

ABSTRACT:

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 been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters. A single Scandinavian family was identified with a different mutation, a missense change in compound heterozygosity with the common intronic mutation. The aim of the study

SUBMITTER: Legati A 

PROVIDER: S-EPMC5740555 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature