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Mitochondrial Fission Factor Gene Mutation: A Dilemma for Prenatal Diagnosis
Mitochondrial fission factor (MFF) gene mutations are rare mitochondrial fission disorders, resulting in autosomal recessive neurological disorders. We here report a rare case of MFF gene mutation running in a family which ultimately turned out to be a variant of unknown significance. A 29-year-old...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061609/ https://www.ncbi.nlm.nih.gov/pubmed/33912434 http://dx.doi.org/10.4103/ijabmr.IJABMR_355_20 |