Article

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

2023-04-26

Abstract excerpt

<title>Abstract</title> <p><italic>RMND1</italic> 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 mitocho...

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Literature Corpus work: 4eec39d3-efe9-5b7f-b7d7-86fdacf40e5f
DOI: 10.21203/rs.3.rs-2838684/v1

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