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Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)

✍ Scribed by De Kremer, Raquel Dodelson ;Paschini-Capra, Ana ;Bacman, Sandra ;Argara�a, Carlos ;Civallero, Gabriel ;Kelley, Richard I. ;Guelbert, Norberto ;Latini, Alexandra ;de Halac, In�s Noher ;Giner-Ayala, Alicia ;Johnston, Jennifer ;Proujansky, Roy ;Gonzalez, Iris ;Depetris-Boldini, Catalina ;Oller-Ram�rez, Ana ;Angaroni, Celia ;Theaux, Ricardo A. ;Hliba, Ernesto ;Juaneda, Ernesto

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 528 KB
Volume: 99
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1136>3.0.co;2-x

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Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)

✍ Gabriella Silvestri; Enrico Bertini; Serenella Servidei; Michele Rana; Elisabett 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 296 KB 👁 2 views

The A to G transition at nt.3243 of the tRNA Leu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated w