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glycogen storage disease type vii/astènia
L'enllaç es desa al porta-retalls
Pàgina 1 des de 35 resultats
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.
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Muscle glycogen storage disease 0 (GSD0) is caused by glycogen depletion in skeletal and cardiac muscles due to deficiency of glycogen synthase 1 (GYS1), which is encoded by the GYS1 gene. Only two families with this disease have been identified. We report a new muscle GSD0 patient, a Japanese girl,
Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.
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We describe a 41-year-old Moroccan woman with phosphofructokinase (PFK) deficiency who presented slowly progressive muscular weakness since childhood, without rhabdomyolysis episode or hemolytic anemia. Deltoid biopsy revealed massive glycogen storage in the majority of muscle fibers and
Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation: a unique disorder or the natural course of this glycolytic disorder?
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Late-onset muscle weakness is rare in glycolytic disorders. There are two reports in the literature of phosphofructokinase (PFK)-deficient Ashkenazi Jews with severe vacuolar myopathy manifesting in late adulthood. The genetic abnormality in these patients is unknown. We report a third patient with
Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.
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Three patients (ages 51, 59, and 79) from two generations of an Ashkenazi Jewish family had partial (33% activity) phosphofructokinase (PFK) deficiency that presented with fixed muscle weakness after the age of 50 years. MR spectroscopy revealed accumulation of phosphomonoesters during exercise.
[Nation-wide survey on muscle glycogen storage disease (MGSDs) and comparison with our experiences in diagnosis of MGSDs].
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To clarify the actual frequency of each type of muscle glycogen storage diseases (MGSDs) in Japan, we performed nation-wide survey in 2001. We compared the results with our diagnostic experiences at Hamamatu City Medical Center for Developmental Medicine. The majority (approximately 80%) of the
[Exercise-induced muscular weakness, myalgia and contractures. II. Casuistic contribution].
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Two sisters with exercise-induced myalgias, muscular weakness and contractures are reported. Neurologic and psychiatric findings were normal, nor did electromyography, serum enzymes and ischemic forearm exercise test reveal specific findings. Under the light microscope multiple muscle fibers
Coexistence of diabetes and phosphofructokinase deficiency.
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OBJECTIVE
To report the first case of coexisting diabetes mellitus and phosphofructokinase deficiency.
METHODS
We describe a 50-year-old woman who had a history of diabetes mellitus, muscle weakness, and mild hemolysis. Phosphofructokinase deficiency was diagnosed with use of the ischemic forearm
Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course.
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Muscle phosphofructokinase deficiency is known to cause childhood-onset exercise intolerance, muscle cramps, and myoglobinuria. Rarely, phosphofructokinase deficiency manifests in infancy as congenital myopathy and arthrogryposis with fatal outcome. Here, the authors report the case of a 2-year-old
First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
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Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-years-old woman who suffered from
Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.
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Human phosphofructokinase (PFK) exists in tetrameric isozymic forms, at least in vitro. Muscle and liver contain homotetramers M4 and L4, respectively, whereas red cells contain five isozymes composed of M (muscle) and L (liver) type subunits, i.e., M4, M3L, M2L2, and ML3, and L4. Homozygous
Neurologic and cardiac progression of glycogenosis type VII over an eight-year period.
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Little is known about the progression of phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). We describe a 66-year-old woman who had this disease diagnosed in 1997. Initial manifestations had included simple partial seizures since 1977, anginal chest pain since 1982, and muscle
Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.
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Tarui disease is a glycogen storage disease (GSD VII) and characterized by exercise intolerance with muscle weakness and cramping, mild myopathy, myoglobinuria and compensated hemolysis. It is caused by mutations in the muscle 6-phosphofructokinase (Pfk). Pfk is an oligomeric, allosteric enzyme
[Exercise-induced muscular weakness, myalgia and contractures. I. A clinical review].
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In the differential diagnosis of intermittent claudication some rare myopathies have to be considered. The most frequent is phosphorylase deficiency (McArdle's disease). Exercise-induced muscular pain, weakness, contractures and occasionally myoglobinuria are the most prominent clinical signs. Serum
Muscle phosphofructokinase deficiency in two generations.
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Phosphofructokinase (PFK) is the key regulatory enzyme of glycolysis. Patients lacking the muscular isoform of PFK typically present with myopathy and compensated hemolysis (glycogenosis type VII or Tarui's disease). Since 1965 about 30 cases of muscular PFK deficiency have been reported. In most
Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII.
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Mammalian phosphofructokinase (PFK; ATP:D-fructose-6-phosphate 1-phosphotransferase, EC 2.7.1.11) exists in multimolecular forms, which result from random tetramerization of three distinct subunits, M (muscle-type), L (liver-type), and P (platelet-type), each under a separate genetic control. Human
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