Received 31 October 1995 and in final revised form 19 February 1996 Accepted 23 February 1996 Abstract Objective-To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. Methods-Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a ped...

PURPOSE The group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form. The underlying genetic defect in most patients with the syndrome of MERRF is a mutation in the tRNALys gene, but mutations were also detected in the tRNAPhe gen...

Based on structural, petrographic and geochronological work (SHRIMP zircon, monazite and rutile), the Mesoproterozoic Albany–Fraser Orogeny is divided into two discrete thermo-tectonic stages, between c. 1345 and 1260 Ma (Stage I) and c. 1214 and 1140 Ma (Stage II). The existence of a two-stage history is confirmed by the discovery of 1321924 Ma detrital zircons and 1154915 Ma metamorphic rutil...

In this review, we comprehensively describe ophthalmic diseases with mitochondrial DNA mutation such as Leber's hereditary optic neuropathy (LHON), progressive external ophthalmoplegia (PEO) and Kearns-Sayre Syndrome (KSS). Ocular involvement is a prominent clinical feature of various mitochondrial diseases as well. The known mitochondrial disorders such as Mitochondrial encephalomyopathy, lact...

An 84-year-old man with an unremarkable disease history came to our center more than 24 hours after having an inferoposterior myocardial infarction. He underwent coronary angiography, which revealed occlusion of the posterolateral branch, with organized thrombus, that could not be revascularized; the thrombolysis in myocardial infarction (TIMI) flow was grade 1. The patient remained asymptomati...

The immediate effects depend on the size, shape, type, velocity and track of the missile. A high velocity rifle or machine-gun bullet entering the chest through an intercostal space and making its way out through a posterior space may occasion, apart from the initial shock, little disability and with luck no complications. A small more slowly moving vulnerant may produce a punctured wound such ...

Mitochondrial A8344G Mutation Mitochondrial disorders are usually characterized by the combination of deep gray and white matter involvement on brain imaging. However, a selective white matter involvement has been reported in specific mitochondrial diseases, including Leber hereditary optic neuropathy, myoneurogastrointestinal encephalomyopathy, and mitochondrial encephalomyopathy with lactic a...

The mitochondrial encephalomyopathies are a heterogeneous group of disorders characterized by mitochondrial dysfunction that produce multisystem symptoms. This disorder affects both the central and peripheral nervous systems, skeletal muscles, heart, endocrine glands, gastrointestinal tract, hematopoietic system, and kidneys (Table 1) [1]. Patients with mitochondrial encephalomyopathy can be di...