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Clinical and Modifier Gene Profiles in Reversible Infantile Respiratory Chain Deficiency: Three Chinese Cases and Literature Review

2025-09-17

Abstract excerpt

<title>Abstract</title> <p>Background Reversible infantile respiratory chain deficiency (RIRCD) associated with homoplasmic MT-TE m.14674T > C/G variants is characterized by severe infantile crisis followed by spontaneous recovery. Nuclear genetic modifiers may influence its phenotypic penetrance. Methods We analyzed the clinical profiles, genetic profiles, and prognosis of three patients with RIRCD and 55 publi...

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Literature Corpus work: 47f4ece8-8db5-5bbd-90dd-d7ed494d38ec
DOI: 10.21203/rs.3.rs-7319096/v1

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