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Glycerol kinase deficiency has two main causes.. The first cause is isolated enzyme deficiency. The enzyme glycerol kinase is encoded by the X-chromosome in humans. [8] It acts as a catalyst in the phosphorylation of glycerol to glycerol-3-phosphate which plays a key role in formation of triacylglycerol (TAG) and fat storage.
The Human Phenotype Ontology provided the following list of symptoms and signs for hyperglycerolemia: [1] Abnormality of metabolism/homeostasis, cognitive deficit, EMG abnormality, muscular hypotonia, myopathy, neurological speech impairment, primary adrenal insufficiency, short stature, cryptorchidism, EEG abnormality, lumbar hyperlordosis, reduced bone mineral density, scoliosis, seizures ...
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. [3] [7] [8] The onset of muscle weakness typically begins around age four, with rapid progression. [2]
Muscular dystrophy; In affected muscle (right), the tissue has become disorganized and the concentration of dystrophin (green) is greatly reduced, compared to normal muscle (left).
GKD Sports Cars was founded in 2006 when company MD Peter Lathrope purchased the Ginetta G27 project. [1] The car was then modified to improve aerodynamics and styling.
On February 27, 2005, GKD Sports Cars purchased the G27 chassis jigs, body moulds, patterns and drawings from Ginetta.. A number of changes were introduced; to the front and rear aerodynamics, styling, torsional rigidity for the chassis, weight, and front suspension geometry.
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The GKD LEGEND is a light-weight performance sports car manufactured by British company GKD Sports Cars, based in Boughton Monchelsea, near Maidstone with workshops at Lenham.