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Shuichi Yatsuga

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Case report Open access Aug 2026

Severe mitochondrial cardiomyopathy with m.3303C > T variant in the mitochondrial tRNALeu(UUR) gene: A study of large family analysis

This study demonstrates that the m.3303C > T variant exhibited, within this family, an exceptionally high threshold effect, with severe phenotypes manifesting only at very high heteroplasmy levels (>90%), and highlights the importance of family screening for genetic counseling.

Shuichi Yatsuga · 1 citation · ⚡1

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