Mitochondrial Myopathy

Published: 08 June 2023
on channel: CheckRare
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Rennie McCarthy, Chief Executive Officer at Stealth Biotherapeutics, provides an overview of mitochondrial myopathy, or myopathic mitochondrial DNA depletion syndrome.

Mitochondrial myopathy is a rare genetic disorder caused by mutations in nuclear genes that are involved in the maintenance of mitochondrial DNA.

The primary clinical features include muscle weakness, exercise intolerance, peripheral neuropathy, and possibly progressive external ophthalmoplegia.

Stealth Biotherapeutics is developing elamipretide, a mitochondrial protective agent, as a possible treatment option for mitochondrial myopathy.


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