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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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Bibliografske podrobnosti
izdano v:BMC Musculoskelet Disord
Main Authors: Soldath, Patrick, Madsen, Karen Lindhardt, Buch, Astrid Emilie, Duno, Morten, Wibrand, Flemming, Vissing, John
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Online dostop: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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