✦ LIBER ✦

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

✍ Scribed by Caterina Mariotti; Nicola Savarese; Anu Suomalainen; Marco Rimoldi; Giacomo Comi; Alessandro Prelle; Carlo Antozzi; Serena Servidei; Laura Jarre; Stefano DiDonato; Massimo Zeviani

Publisher: Springer
Year: 1995
Tongue: English
Weight: 928 KB
Volume: 242
Category: Article
ISSN: 0340-5354
DOI: 10.1007/bf00878873

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prevalence, segregation, and phenotype o

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

✍ Johanna Uusimaa; Jukka S. Moilanen; Leena Vainionpää; Päivi Tapanainen; Päivi Li 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 212 KB 👁 2 views

## Abstract ## Objective We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children in a defined population in Northern Ostrobothnia, Finland. ## Methods Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blo

Maternally inherited cardiomyopathy: A n

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

The expanding clinical phenotype of the

The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy

✍ Feigenbaum, Annette; Chitayat, David; Robinson, Brian; MacGregor, Daune; Myint, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a

Barth's syndrome-like disorder: A new ph

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

✍ De Kremer, Raquel Dodelson ;Paschini-Capra, Ana ;Bacman, Sandra ;Argara�a, Carlo 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 528 KB

Varying loads of the mitochondrial DNA A

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis

✍ Shanske, Sara ;Pancrudo, Jacklyn ;Kaufmann, Petra ;Engelstad, Kristin ;Jhung, Sa 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 3 views

Level of heteroplasmy for the mitochondr

Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness

✍ Charlotta Olsson; Björn Zethelius; Maria Lagerström-Fermér; Johan Asplund; Chris 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 244 KB 👁 1 views

The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset am