Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy

Background Mitochondrial disorders are known to cause diverse neurological phenotypes which cause a diagnostic challenge to most neurologists. Pathogenic polymerase gamma (POLG) variants have been described as a cause of chronic progressive external ophthalmoplegia, which manifests with ptosis, hori...

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Detalhes bibliográficos

Principais autores:	Naomi Warren, Andrew M Schaefer, Robert W Taylor, Emma L Blakely, Sila Hopton, Menatalla Elwan, Kate Craig, Gavin Falkous
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 2022-12-01
coleção:	BMJ Neurology Open
Acesso em linha:	https://neurologyopen.bmj.com/content/4/2/e000352.full
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