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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:BMC Musculoskelet Disord
Hauptverfasser: Soldath, Patrick, Madsen, Karen Lindhardt, Buch, Astrid Emilie, Duno, Morten, Wibrand, Flemming, Vissing, John
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
Schlagworte:
Online Zugang: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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