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...

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Detalles Bibliográficos
Autores principales: Sharma, Charu, Saini, Arunima, Gothwal, Meenakshi, Jhirwal, Manisha, Patwa, Payal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
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

Internet

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

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