LMX1B 17-bp Deletion and A3243G mtDNA Transition in a Previously Described Patient

Finsterer, Josef; Stöllberger, Claudia

doi:10.1159/000069078

Cited by 2 publications

(2 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A variety of conditions have been described in association with MIDD, such as placental accreta [93], retinal branch vein occlusion [125], nail‐patella syndrome [126], Barth's syndrome [127], pelvic lymphocyst infection [128], urinary retention [129–131], polymicrogyria [132] and premature greying [3]. A causative role for m.3243A>G mutation is difficult to define in these unusual, and probably coincidental, features.…”

Section: Clinical Featuresmentioning

confidence: 99%

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

et al. 2008

View full text Add to dashboard Cite

Maternally inherited diabetes and deafness (MIDD) affects up to 1% of patients with diabetes but is often unrecognized by physicians. It is important to make an accurate genetic diagnosis, as there are implications for clinical investigation, diagnosis, management and genetic counselling. This review summarizes the range of clinical phenotypes associated with MIDD; outlines the advances in genetic diagnosis and pathogenesis of MIDD; summarizes the published prevalence data and provides guidance on the clinical management of these patients and their families.

show abstract

Section: Clinical Featuresmentioning

confidence: 99%

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

et al. 2008

View full text Add to dashboard Cite

show abstract

“…In a single patient the A3243G mutation was associated with hypertrophic cardiomyopathy and heart failure (137). In two other patients the A3243G mutation was associated with left ventricular hypertrabeculation also known as noncompaction of the left ventricular myocardium (85, 138).…”

Section: Phenotype Of A3243g Mutantsmentioning

confidence: 99%

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation

Finsterer

2007

Acta Neurol Scand

105

View full text Add to dashboard Cite

Mitochondrial disorders are frequently caused by mutations in mitochondrial genes and usually present as multisystem disease. One of the most frequent mitochondrial mutations is the A3,243G transition in the tRNALeu(UUR) gene. The phenotypic expression of the mutation is variable and comprises syndromic or non-syndromic mitochondrial disorders. Among the syndromic manifestations the mitochondrial encephalopathy, lactacidosis, and stroke-like episode (MELAS) syndrome is the most frequent. In single cases the A3,243G mutation may be associated with maternally inherited diabetes and deafness syndrome, myoclonic epilepsy and ragged-red fibers (MERRF) syndrome, MELAS/MERRF overlap syndrome, maternally inherited Leigh syndrome, chronic external ophthalmoplegia, or Kearns-Sayre syndrome. The wide phenotypic variability of the mutation is explained by the peculiarities of the mitochondrial DNA, such as heteroplasmy and mitotic segregation, resulting in different mutation loads in different tissues and family members. Moreover, there is some evidence that additional mtDNA sequence variations (polymorphisms, haplotypes) influence the phenotype of the A3,243G mutation. This review aims to give an overview on the actual knowledge about the genetic, pathogenetic, and phenotypic implications of the A3,243G mtDNA mutation.

show abstract

LMX1B 17-bp Deletion and A3243G mtDNA Transition in a Previously Described Patient

Cited by 2 publications

References 5 publications

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation

Contact Info

Product

Resources

About