Article
The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.
Journal of molecular medicine (Berlin, Germany) - 1 Oct 2023
Rioux Alexis V, Bergeron Nicolas Ad, Riopel Julie, Marcoux Nicolas, Thériault Catherine, Gould Peter V, Garneau Alexandre P, Isenring Paul
Abstract excerpt
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 presentations have been reported in some individuals, including two in whom the mitochondriopathy was identified at ~ 40 years of...
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