Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

BACKGROUND: Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objectiv...

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Detalles Bibliográficos
Autores principales: Soldath, Patrick, Madsen, Karen Lindhardt, Buch, Astrid Emilie, Duno, Morten, Wibrand, Flemming, Vissing, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649050/
https://www.ncbi.nlm.nih.gov/pubmed/29052516
http://dx.doi.org/10.1186/s12891-017-1781-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649050/
https://www.ncbi.nlm.nih.gov/pubmed/29052516
http://dx.doi.org/10.1186/s12891-017-1781-0

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