메뉴 건너뛰기




Volumn 137, Issue 1, 1996, Pages 14-19

Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy

Author keywords

Glycogenosis type V; McArdle's disease; Muscle phosphorylase deficiency

Indexed keywords

MESSENGER RNA; PHOSPHORYLASE;

EID: 0030007273     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00298-G     Document Type: Article
Times cited : (36)

References (29)
  • 1
    • 0025183641 scopus 로고
    • Diversity of some gene frequencies in european and asian populations. V. Steep multilocus clines
    • Barbujani, G., G.M. Jacquez, L. Ligi (1990) Diversity of some gene frequencies in european and asian populations. V. Steep multilocus clines. Am. J. Hum. Genet. 47: 867-875.
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 867-875
    • Barbujani, G.1    Jacquez, G.M.2    Ligi, L.3
  • 2
    • 0025248283 scopus 로고
    • Zones of sharp genetic change in Europe are also linguistic boundaries
    • Barbujani, G., R.R. Sokal (1990) Zones of sharp genetic change in Europe are also linguistic boundaries. Proc, Natl. Acad. Sci. USA 87: 1816-1819.
    • (1990) Proc, Natl. Acad. Sci. USA , vol.87 , pp. 1816-1819
    • Barbujani, G.1    Sokal, R.R.2
  • 3
    • 0027302919 scopus 로고
    • McArdle's disease: A nonsense mutation in exon 1 of the muscle phosphorylase gene explains some but not all cases
    • Bartram, C., R.H.T. Edwards, J. Clague and R.J. Beynon (1993) McArdle's disease: a nonsense mutation in exon 1 of the muscle phosphorylase gene explains some but not all cases. Hum. Mol. Genet., 2: 1291-1293.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1291-1293
    • Bartram, C.1    Edwards, R.H.T.2    Clague, J.3    Beynon, R.J.4
  • 5
    • 0026794760 scopus 로고
    • Coordinated expression of phosphorylase kinase subunits in regenerating skeletal muscle
    • Cawley, K.C., C.G. Akita, M.A. Wineinger, R.C. Carlsen, F.A. Gorin and D.A. Walsh (1992) Coordinated expression of phosphorylase kinase subunits in regenerating skeletal muscle. J. Biol. Chem., 267: 17287-17295.
    • (1992) J. Biol. Chem. , vol.267 , pp. 17287-17295
    • Cawley, K.C.1    Akita, C.G.2    Wineinger, M.A.3    Carlsen, R.C.4    Gorin, F.A.5    Walsh, D.A.6
  • 7
    • 0001154148 scopus 로고
    • Nonlysosomal glycogenoses
    • Engel A.G. and B.Q. Banker (Eds.), McGraw-Hill, New York
    • DiMauro, S. and Tsujino, S. (1994) Nonlysosomal glycogenoses. In: Engel A.G. and B.Q. Banker (Eds.), Myology, 2nd edn., McGraw-Hill, New York, pp. 1554-1576.
    • (1994) Myology, 2nd Edn. , pp. 1554-1576
    • DiMauro, S.1    Tsujino, S.2
  • 8
    • 0023136245 scopus 로고
    • Molecular mechanisms of mcArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis
    • Gautron, S., D. Daegelen, F. Mennecier, D. Dubocq, A. Khan and J.C. Dreyfus (1987) Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis. J. Clin. Invest., 79: 275-281.
    • (1987) J. Clin. Invest. , vol.79 , pp. 275-281
    • Gautron, S.1    Daegelen, D.2    Mennecier, F.3    Dubocq, D.4    Khan, A.5    Dreyfus, J.C.6
  • 9
    • 0022456513 scopus 로고
    • The pathophysiology of mcArdle disease: Clues to regulation in exercise and fatigue
    • Lewis, S.F. and R.G. Haller (1986) The pathophysiology of McArdle disease: clues to regulation in exercise and fatigue. J. Appl. Physiol., 61: 391-401.
    • (1986) J. Appl. Physiol. , vol.61 , pp. 391-401
    • Lewis, S.F.1    Haller, R.G.2
  • 10
    • 0025792055 scopus 로고
    • Identification of a tissue-specific regulatory element within the human muscle glycogen phosphorylase gene
    • Lockyer, J.M. and J.B. McCracken Jr. (1991) Identification of a tissue-specific regulatory element within the human muscle glycogen phosphorylase gene. J. Biol. Chem., 266: 20262-20269.
    • (1991) J. Biol. Chem. , vol.266 , pp. 20262-20269
    • Lockyer, J.M.1    McCracken J.B., Jr.2
  • 11
    • 0027429604 scopus 로고
    • Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency
    • Martinuzzi, A., L. Vergani, R. Carrozzo, M. Fanin, L. Bartoloni, C. Angelini, V. Askanas, W. King Engel (1993) Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency. J. Clin. Invest., 92: 1774-1780.
    • (1993) J. Clin. Invest. , vol.92 , pp. 1774-1780
    • Martinuzzi, A.1    Vergani, L.2    Carrozzo, R.3    Fanin, M.4    Bartoloni, L.5    Angelini, C.6    Askanas, V.7    Engel, W.K.8
  • 13
    • 84924923845 scopus 로고
    • Myopathy due to defect in muscle glycogen breakdown
    • McArdle, B. (1951) Myopathy due to defect in muscle glycogen breakdown. Clin. Sci., 10: 13-33.
    • (1951) Clin. Sci. , vol.10 , pp. 13-33
    • McArdle, B.1
  • 17
    • 0028100734 scopus 로고
    • Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenosis VII and their population frequency
    • Sherman, J.B., N. Raben, C. Nicastri, Z. Argov, H. Nakajima, E.M. Adams, C.M. Eng, T.M. Cowan, P.H. Plotz (1994) Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenosis VII and their population frequency. Am. J. Genet. 55: 305-313.
    • (1994) Am. J. Genet. , vol.55 , pp. 305-313
    • Sherman, J.B.1    Raben, N.2    Nicastri, C.3    Argov, Z.4    Nakajima, H.5    Adams, E.M.6    Eng, C.M.7    Cowan, T.M.8    Plotz, P.H.9
  • 19
    • 0029050792 scopus 로고
    • Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): Single-codon deletion in exon 17 is the predominant mutation
    • Sugie, H., Y. Sugie, M. Ito, T. Fukuda, I. Nonaka and Y. Igarashi (1995) Genetic analysis of Japanese patients with myophosphorylase deficiency (McArdle's disease): single-codon deletion in exon 17 is the predominant mutation. Clin. Chim. Acta 236: 81-86.
    • (1995) Clin. Chim. Acta , vol.236 , pp. 81-86
    • Sugie, H.1    Sugie, Y.2    Ito, M.3    Fukuda, T.4    Nonaka, I.5    Igarashi, Y.6
  • 20
    • 84989745040 scopus 로고
    • Molecular basis of muscle phosphoglycerate muatase (PGAM) deficiency in an Italian kindred
    • Toscano, A., S. Tsujino, G. Vita, S. Shanske, S. DiMauro, C. Messina (1993) Molecular basis of muscle phosphoglycerate muatase (PGAM) deficiency in an Italian kindred. Neurology 43 (suppl. 1) A279.
    • (1993) Neurology , vol.43 , Issue.SUPPL. 1
    • Toscano, A.1    Tsujino, S.2    Vita, G.3    Shanske, S.4    DiMauro, S.5    Messina, C.6
  • 21
    • 0027194215 scopus 로고
    • Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
    • Tsujino, S., S. Shanske and S. DiMauro (1993a) Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N. Engl. J. Med., 329: 241-245
    • (1993) N. Engl. J. Med. , vol.329 , pp. 241-245
    • Tsujino, S.1    Shanske, S.2    DiMauro, S.3
  • 22
    • 0027495730 scopus 로고
    • The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency
    • Tsujino, S., S. Shanske, S. Sakoda, G. Fenichel, S. DiMauro (1993b) The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am. J. Hum. Genet. 52: 472-477.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 472-477
    • Tsujino, S.1    Shanske, S.2    Sakoda, S.3    Fenichel, G.4    DiMauro, S.5
  • 24
    • 0028339375 scopus 로고
    • Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
    • Tsujino, S., S. Shanske, Y. Goto, I. Nonaka, S. DiMauro (1994b) Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease. Hum. Molec. Genet. 3: 1005-1006.
    • (1994) Hum. Molec. Genet. , vol.3 , pp. 1005-1006
    • Tsujino, S.1    Shanske, S.2    Goto, Y.3    Nonaka, I.4    DiMauro, S.5
  • 25
    • 0028241762 scopus 로고
    • An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)
    • Tsujino, S., L. A. Rubin, S. Shanske, S. DiMauro (1994c) An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). Hum. Mutat. 4: 73-75.
    • (1994) Hum. Mutat. , vol.4 , pp. 73-75
    • Tsujino, S.1    Rubin, L.A.2    Shanske, S.3    DiMauro, S.4
  • 26
    • 0028329868 scopus 로고
    • Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency
    • Tsujino, S., S. Servidei, P. Tonin, S. Shanske, G. Azan, S. DiMauro (1994d) Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Am. J. Hum. Genet. 54: 812-819.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 812-819
    • Tsujino, S.1    Servidei, S.2    Tonin, P.3    Shanske, S.4    Azan, G.5    DiMauro, S.6
  • 27
    • 0028111774 scopus 로고
    • Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients
    • Tsujino, S., S. Shanske, A.K.W. Brownell, R.G. Haller, S. DiMauro (1994e) Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients. Ann. Neurol. 36: 661-665.
    • (1994) Ann. Neurol. , vol.36 , pp. 661-665
    • Tsujino, S.1    Shanske, S.2    Brownell, A.K.W.3    Haller, R.G.4    DiMauro, S.5
  • 28
    • 0028231750 scopus 로고
    • A splice junction mutation in a new myopathie variant of phosphoglycerate kinase deficiency (PGK North Carolina)
    • Tsujino, S., P. Tonin, S. Shanske, V. Nohria, R.B. Boustany, D. Lewis, Y.T. Chen, S. DiMauro (1994f) A splice junction mutation in a new myopathie variant of phosphoglycerate kinase deficiency (PGK North Carolina). Ann. Neurol. 35: 349-353.
    • (1994) Ann. Neurol. , vol.35 , pp. 349-353
    • Tsujino, S.1    Tonin, P.2    Shanske, S.3    Nohria, V.4    Boustany, R.B.5    Lewis, D.6    Chen, Y.T.7    DiMauro, S.8
  • 29
    • 0029156496 scopus 로고
    • Two novel missense mutations in Caucasian patients with myophosphorylase deficiency (McArdle's disease)
    • in press
    • Tsujino, S., S. Shanske, A. Martinuzzi, T. Heiman-Patterson and S. DiMauro (1995) Two novel missense mutations in Caucasian patients with myophosphorylase deficiency (McArdle's disease). Hum. Mut. in press.
    • (1995) Hum. Mut.
    • Tsujino, S.1    Shanske, S.2    Martinuzzi, A.3    Heiman-Patterson, T.4    DiMauro, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.