✦ LIBER ✦

Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA

✍ Scribed by Y. Campos; J. Bautista; E. Gutiérrez-Rivas; D. Chinchón; A. Cabello; D. Segura; J. Arenas

Book ID: 114784495
Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 487 KB
Volume: 91
Category: Article
ISSN: 0001-6314
DOI: 10.1111/j.1600-0404.1995.tb05845.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Sporadic MERRF/MELAS overlap syndrome as

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNALeu(UUR) mutation of mitochondrial DNA

✍ Yolanda Campos; Miguel Angel Martin; Gustavo Lorenzo; Manuel Aparicio; Ana Cabel 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 1 views

## ~~ We studied a patient with a rnitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy show

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

Acute pancreatitis in an infant with lac

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu[UUR] gene

✍ P. S. Kishnani; J. L. K. Van Hove; J. S. Shoffner; A. Kaufman; E. H. Bossen; S. 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 741 KB

116 Bipolar disorder as the presenting c

116 Bipolar disorder as the presenting clinical feature of the 3243A>G mutation in the mitochondrial tRNALeu(UUR) gene

✍ Fernando Scaglia; Ricardo Diaz Millan; Chester W. Brown; Lee-Jun C. Wong 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 62 KB

Accumulation of Somatic Nucleotide Subst

Accumulation of Somatic Nucleotide Substitutions in Mitochondrial DNA Associated with the 3243 A-to-G tRNALeu(UUR)Mutation in Encephalomyopathy and Cardiomyopathy

✍ Sergey A. Kovalenko; Masashi Tanaka; Makoto Yoneda; Alexander F. Iakovlev; Takay 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 86 KB

UKPDS 21: Low Prevalence of the Mitochon

UKPDS 21: Low Prevalence of the Mitochondrial Transfer RNA gene (tRNALeu(UUR)) Mutation at Position 3243bp in UK Caucasian Type 2 Diabetic Patients

✍ Saker, P.J.; Hattersley, A.T.; Barrow, B.; Hammersley, M.S.; Horton, V.; Gillmer 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 2 views

Some patients with Type 2 (non-insulin-dependent) diabetes mellitus possess a mitochondrial mutation in the tRNA Leu(UUR) gene at position 3243 bp. These subjects show a maternal mode of inheritance and often have hearing defects. In French and Japanese populations, this mutation may be present in 1