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A Novel Mmachc c.80A>G Mouse Model Reveals the Role of Mitochondrial Dysfunction in Skeletal Muscle in Combined Methylmalonic Acidemia and Homocystinuria

2025-03-18

Abstract excerpt

<title>Abstract</title> <p> Combined methylmalonic acidemia and homocystinemia (cblC) is an autosomal recessive disorder characterized by aberrant organic acid metabolism. The c.80A > G mutation in the <italic>MMACHC</italic> gene has been documented in numerous studies and linked to cblC phenotypes. However, this mutation's pathogenic mechanisms remain elusive, as it has not yet been validated through functio...

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Literature Corpus work
246109c4-2a60-5af8-93f2-299f716d1147
DOI
10.21203/rs.3.rs-5790448/v2
Open publication

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A Novel Mmachc c.80A&gt;G Mouse Model Reveals the Role of Mitochondrial Dysfunction in Skeletal Muscle in Combined Methylmalonic Acidemia and HomocystinuriaDOI 10.21203/rs.3.rs-5790448/v2
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