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Exome Sequencing of families with Histiocytoid Cardiomyopathy reveals a Complex I Mitochondrial Etiology with NDUFB11 Mutation
Histiocytoid cardiomyopathy (Histiocytoid CM) is a rare form of cardiomyopathy observed predominantly in newborn females that is fatal unless treated early in life. We have performed whole exome sequencing on five parent-proband trios and identified nuclear-encoded mitochondrial protein mutations in...
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| Опубликовано в: : | Am J Med Genet A |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4753789/ https://ncbi.nlm.nih.gov/pubmed/25921236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37138 |
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