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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2023
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| Materias: | |
| 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 |