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RFC4 function has not been fully characterized.
Morimoto-Ryu-Malicdan neuromuscular syndrome is associated with mutations in the RFC4 gene on chromosome 3.
Genetic testing for RFC4 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for Morimoto-Ryu-Malicdan neuromuscular syndrome.
1 publication has been identified in PubMed for Morimoto-Ryu-Malicdan neuromuscular syndrome. Research spans Case Report / Case Series (100%).
Lauerova B (2025). [PMID: 40327962](https://pubmed.ncbi.nlm.nih.gov/40327962/). *Neuromuscul Disord*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC
Online Mendelian Inheritance in Man
Common questions about Morimoto-Ryu-Malicdan neuromuscular syndrome