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Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy
Prenatal diagnosis of disorders due to mitochondrial DNA (mtDNA) tRNA gene mutations is problematic. Experience in families harboring the protein-coding ATPase 6 m.8993T>G mutation suggests that the mutant load is homogeneous in different tissues, thus allowing prenatal diagnosis. We have encount...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3959766/ https://ncbi.nlm.nih.gov/pubmed/22532554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073812441067 |
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