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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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| Pubblicato in: | BMC Musculoskelet Disord |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5649050/ https://ncbi.nlm.nih.gov/pubmed/29052516 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-017-1781-0 |
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