Φορτώνει......
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
The most common clinical phenotype caused by a mtDNA mutation in complex I of the mitochondrial respiratory chain is Leber hereditary optic neuropathy. We report a family with a novel maternally inherited homoplasmic mtDNA m.4087A>G mutation in the ND1 gene (MT-ND1) associated with isolated myopa...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | JIMD Rep |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer Berlin Heidelberg
2015
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5059218/ https://ncbi.nlm.nih.gov/pubmed/26108648 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_459 |
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