Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Sy...
Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
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Switzerland: MDPI AG
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English
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Switzerland: MDPI AG
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This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the
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Full title
Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11507380
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11507380
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ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes15101289
