Total: 9 |
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PMID (PMCID) | ||
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8659544 |
MIXED_SAMPLE | Adult |
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. | ||
Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N. Am J Hum Genet. 1996;59(1):59-65. |
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Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. | ||
8659544 |
MIXED_SAMPLE | Adult |
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. | ||
Nichols RC, Rudolphi O, Ek B, Exelbert R, Plotz PH, Raben N. Am J Hum Genet. 1996;59(1):59-65. |
||
Deficiency of muscle isoenzyme (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. | ||
8880699 |
MIXED_SAMPLE | Adult |
Muscle phosphofructokinase deficiency in two generations. | ||
Vorgerd M, Karitzky J, Ristow M, Van Schaftingen E, Tegenthoff M, Jerusalem F, Malin JP. J Neurol Sci. 1996;141(1-2):95-9. |
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Patients lacking the muscular isoform of PFK typically present with myopathy and compensated hemolysis (glycogenosis type VII or Tarui's disease). | ||
7479776 |
MIXED_SAMPLE | Middle Aged |
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. | ||
Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG. Proc Natl Acad Sci U S A. 1995;92(22):10322-6. |
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Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease). | ||
7479776 |
MIXED_SAMPLE | Middle Aged |
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. | ||
Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG. Proc Natl Acad Sci U S A. 1995;92(22):10322-6. |
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Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease). | ||
8444874 |
MIXED_SAMPLE | Middle Aged |
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). | ||
Raben N, Sherman J, Miller F, Mena H, Plotz P. J Biol Chem. 1993;268(7):4963-7. |
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A deficiency of the muscle isoform of the enzyme, phosphofructokinase (PFK, EC 2.7.1.11), leads to an illness (glycogenosis, Type VII) characterized by myopathy and hemolysis. | ||
2960695 |
MALE | |
Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. | ||
Vora S, DiMauro S, Spear D, Harker D, Danon MJ. J Clin Invest. 1987;80(5):1479-85. |
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Homozygous deficiency of muscle PFK results in the classic glycogen storage disease type VII characterized by exertional myopathy and hemolytic syndrome beginning in early childhood. | ||
6227635 |
MALE | Adult |
Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency. | ||
Vora S, Davidson M, Seaman C, Miranda AF, Noble NA, Tanaka KR, Frenkel EP, Dimauro S. J Clin Invest. 1983;72(6):1995-2006. |
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To define the molecular basis and pathogenesis of this enzymopathy, we investigated four unrelated individuals manifesting myopathy and hemolysis (glycogenosis type VII), isolated hemolysis, or no symptoms at all. | ||
6444532 |
MALE | Adult |
The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. | ||
Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S. Blood. 1980;55(4):629-35. |
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In the light of these findings, we have investigated the molecular basis of the inherited erythrocyte PFK deficiency associated with myopathy and hemolysis (Tarui disease). |