Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:BMC Musculoskelet Disord
Autori principali: Soldath, Patrick, Madsen, Karen Lindhardt, Buch, Astrid Emilie, Duno, Morten, Wibrand, Flemming, Vissing, John
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !