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Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate (), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins.
Myofibrillar myopathy 1 (MFM1) LGMD1D & LGMD2R: 601419: DES: Distal weakness and significant cardiac involvement Not yet given new nomenclature: LGMD1H: 613530: unknown: 3p23–p25.1 "False linkage" [3] Possibly mitochondrial myopathy [27] Pompe disease (Glycogen storage disease type 2) LGMD2V 232300: GAA: Known disease entity, histological changes
The expanded maternity unit is designed to handle 3,500 deliveries a year. The expansion of the heart center included two operating rooms and many cardiology upgrades allowing it to function as a fully functioning emergency cardiac treatment center. Following this, in July 2003, an $18 million project to expand the emergency room was completed. [9]
Chronic progressive external ophthalmoplegia (CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. [1] It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis.
Mitochondrial myopathy—defect in mitochondrial enzymes or transport proteins for oxidative phosphorylation (including citric acid cycle and electron transport chain), excluding those for fatty acid oxidation. Occurs in the mitochondrial membrane or within the mitochondrion of the muscle cell.
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells .
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. [3] Biallelic pathogenic mutations in the AGK gene, which encodes the acylglycerol kinase enzyme , cause Sengers syndrome. [ 2 ]
Currently, there are 18 mutations and conditions in the Cure Rare Disease pipeline, including Duchenne muscular dystrophy, various subtypes of Limb-girdle muscular dystrophy, spinocerebellar ataxia type 3 (SCA3), and ADSSL1 distal myopathy. As of 2022, none of these conditions have a viable treatment available for the population impacted.