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Mitochondrial Variants in Pompe Disease: A Comparison between Classic and Non-Classic Forms
OBJECTIVE: Pompe disease (PD) is a progressive neuromuscular disorder that is caused by glucosidase acid alpha (GAA) deleterious mutations. Mitochondrial involvement is an important contributor to neuromuscular diseases. In this study the sequence of MT-ATP 6/8 and Cytochrome C oxidase I/II genes al...
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| Vydáno v: | Cell J |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Royan Institute
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6004991/ https://ncbi.nlm.nih.gov/pubmed/29845786 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22074/cellj.2018.5238 |
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