The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications

ABSTRACT: RMND1 has been identified as a mitochondriopathy-associated gene less than 12 years ago. The most common phenotype related to this gene is an early onset, severe form of encephalomyopathy that leads to death in a medium time of three years after birth. However, milder and later onset prese...

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Detalles Bibliográficos
Autores principales: Rioux, Alexis V., Bergeron, Nicolas AD., Riopel, Julie, Marcoux, Nicolas, Thériault, Catherine, Gould, Peter V., Garneau, Alexandre P., Isenring, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560146/
https://www.ncbi.nlm.nih.gov/pubmed/37584739
http://dx.doi.org/10.1007/s00109-023-02356-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10560146/
https://www.ncbi.nlm.nih.gov/pubmed/37584739
http://dx.doi.org/10.1007/s00109-023-02356-x

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