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Rafael Inácio

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Review Open access Sep 2026

Expanding the Phenotypic Spectrum of MC3DN8: A Report of Three Patients Homozygous for the c.73G>A Variant in the LYRM7 Gene

Purpose: To describe the clinical and neuroimaging features of mitochondrial complex III deficiency, nuclear type 8 (MC3DN8), associated with a recurrent leucine tyrosine arginine motif protein 7 ( LYRM7 ) variant, and to place these findings in the context of the existing literature. Methods: We describe three pediatr...

Rafael Inácio, P. Pinto, Guilherme Martins et al. · 0 citations

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