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Whole exome sequencing of suspected mitochondrial patients in clinical practice
Mitochondrial disorders are characterized by a broad clinical spectrum. Identical clinical signs and symptoms can be caused by mutations in different mitochondrial or nuclear genes. Vice versa, the same mutation can lead to different phenotypes. Genetic syndromes and neuromuscular disorders mimickin...
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| Pubblicato in: | J Inherit Metab Dis |
|---|---|
| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Netherlands
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4432107/ https://ncbi.nlm.nih.gov/pubmed/25735936 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9823-y |
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