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Volumn 4, Issue 10, 2008, Pages 568-577

McArdle disease: What do neurologists need to know?

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; DANTROLENE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GENTAMICIN; GLUCOSE; PLACEBO; PTC 124;

EID: 54049125345     PISSN: 1745834X     EISSN: 17458358     Source Type: Journal    
DOI: 10.1038/ncpneuro0913     Document Type: Review
Times cited : (141)

References (70)
  • 1
    • 0033922177 scopus 로고    scopus 로고
    • Treatment of McArdle disease
    • Haller RG (2000) Treatment of McArdle disease. Arch Neurol 57 923-924
    • (2000) Arch Neurol , vol.57 , pp. 923-924
    • Haller, R.G.1
  • 2
    • 84924923845 scopus 로고
    • Myopathy due to a defect in muscle glycogen breakdown
    • McArdle B (1951) Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 10: 13-33
    • (1951) Clin Sci , vol.10 , pp. 13-33
    • McArdle, B.1
  • 3
    • 34548615760 scopus 로고    scopus 로고
    • McArdle disease: Molecular genetic update
    • Andreu AL et al. (2007) McArdle disease: Molecular genetic update. Acta Myol 26: 53-57
    • (2007) Acta Myol , vol.26 , pp. 53-57
    • Andreu, A.L.1
  • 4
    • 34548649779 scopus 로고    scopus 로고
    • Muscle glycogenoses: An overview
    • DiMauro S (2007) Muscle glycogenoses: An overview. Acta Myol 26 35-41
    • (2007) Acta Myol , vol.26 , pp. 35-41
    • DiMauro, S.1
  • 5
    • 20544456343 scopus 로고    scopus 로고
    • A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease
    • Isackson PJ et al. (2005) A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. Mol Genet Metab 85: 239-242
    • (2005) Mol Genet Metab , vol.85 , pp. 239-242
    • Isackson, P.J.1
  • 6
    • 0027194215 scopus 로고    scopus 로고
    • (11993) Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
    • Tsujino, S et al. (11993) Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 329: 241-245
    • N Engl J Med , vol.329 , pp. 241-245
    • Tsujino, S.1
  • 7
    • 0036083005 scopus 로고    scopus 로고
    • Myophosphorylase deficiency (glycogenosis type V; McArdle disease)
    • DiMauro S et al. (2002) Myophosphorylase deficiency (glycogenosis type V; McArdle disease). Curr Mol Med 2: 189-196
    • (2002) Curr Mol Med , vol.2 , pp. 189-196
    • DiMauro, S.1
  • 8
    • 0347517831 scopus 로고    scopus 로고
    • The effect of oral sucrose on exercise tolerance in patients with McArdle's disease
    • Vissing J and Haller RG (2003) The effect of oral sucrose on exercise tolerance in patients with McArdle's disease. N Engl J Med 349 2503-2509
    • (2003) N Engl J Med , vol.349 , pp. 2503-2509
    • Vissing, J.1    Haller, R.G.2
  • 9
    • 0037870632 scopus 로고    scopus 로고
    • Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease: A noninvasive 31P-MRS and EMG study
    • Zange J et al. (2003) Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease: A noninvasive 31P-MRS and EMG study. Muscle Nerve 27: 728-736
    • (2003) Muscle Nerve , vol.27 , pp. 728-736
    • Zange, J.1
  • 10
    • 0022456513 scopus 로고    scopus 로고
    • The pathophysiology of McArdle's disease: Clues to regulation in exercise and fatigue
    • 11986
    • Lewis SF and Haller RG (11986) The pathophysiology of McArdle's disease: clues to regulation in exercise and fatigue. J Appl Physiol 61 391-401
    • J Appl Physiol , vol.61 , pp. 391-401
    • Lewis, S.F.1    Haller, R.G.2
  • 11
    • 0345164365 scopus 로고    scopus 로고
    • +-ATPase in McArdle disease
    • +-ATPase in McArdle disease. Neurology 50: 37-40
    • (1998) Neurology , vol.50 , pp. 37-40
    • Haller1
  • 12
    • 0037379666 scopus 로고    scopus 로고
    • Phenotype modulators in myophosphorylase deficiency
    • Martinuzzi A et al. (2003) Phenotype modulators in myophosphorylase deficiency. Ann Nueurol 53: 497-502
    • (2003) Ann Nueurol , vol.53 , pp. 497-502
    • Martinuzzi, A.1
  • 13
    • 34447509255 scopus 로고    scopus 로고
    • Genotype modulators of clinical severity in McArdle disease
    • Rubio JC et al. (2007) Genotype modulators of clinical severity in McArdle disease. Neurosci Lett 422: 217-222
    • (2007) Neurosci Lett , vol.422 , pp. 217-222
    • Rubio, J.C.1
  • 14
    • 34447336686 scopus 로고    scopus 로고
    • Favorable responses to acute and chronic exercise in McArdle patients
    • Maté-Muñoz JL et al. (2007) Favorable responses to acute and chronic exercise in McArdle patients. Clin J Sport Med 117: 297-303
    • (2007) Clin J Sport Med , vol.117 , pp. 297-303
    • Maté-Muñoz, J.L.1
  • 15
    • 27844542729 scopus 로고    scopus 로고
    • Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene
    • Paradas C et al. (2005) Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene. Neurosci Lett 31: 28-31
    • (2005) Neurosci Lett , vol.31 , pp. 28-31
    • Paradas, C.1
  • 16
    • 1942475108 scopus 로고    scopus 로고
    • McArdle's disease presenting as unexplained dyspnea in a young woman
    • Voduc N et al. (2004) McArdle's disease presenting as unexplained dyspnea in a young woman. Can Respir J 11: 163-167
    • (2004) Can Respir J , vol.11 , pp. 163-167
    • Voduc, N.1
  • 17
    • 0034628406 scopus 로고    scopus 로고
    • The ACE gene and muscle performance
    • Williams AG et al. (2000) The ACE gene and muscle performance. Nature 403: 614
    • (2000) Nature , vol.403 , pp. 614
    • Williams, A.G.1
  • 18
    • 39449090137 scopus 로고    scopus 로고
    • The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease
    • Gómez-Gallego F et al. (2008) The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease. Br J Sports Med 42: 134-140
    • (2008) Br J Sports Med , vol.42 , pp. 134-140
    • Gómez-Gallego, F.1
  • 19
    • 0029054612 scopus 로고
    • Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci
    • Tsujino S et al. (1995) Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. Neuromuscul Disord 15: 263-266
    • (1995) Neuromuscul Disord , vol.15 , pp. 263-266
    • Tsujino, S.1
  • 20
    • 42149173179 scopus 로고    scopus 로고
    • AMPD1 genotypes and exercise capacity in McArdle patients
    • Rubio JC et al. (2008) AMPD1 genotypes and exercise capacity in McArdle patients. Int J Sports Med 29: 331-335
    • (2008) Int J Sports Med , vol.29 , pp. 331-335
    • Rubio, J.C.1
  • 21
    • 34547910308 scopus 로고    scopus 로고
    • Exercise capacity in a child with McArdle disease
    • Pérez M et al. (2007) Exercise capacity in a child with McArdle disease. J. Child Neurol 22: 880-882
    • (2007) J. Child Neurol , vol.22 , pp. 880-882
    • Pérez, M.1
  • 22
    • 0018086688 scopus 로고
    • Fatal infantile form of muscle phosphorylase deficiency
    • DiMauro S and Hartlage PL (1978) Fatal infantile form of muscle phosphorylase deficiency. Neurology 28: 1124-1129
    • (1978) Neurology , vol.28 , pp. 1124-1129
    • DiMauro, S.1    Hartlage, P.L.2
  • 23
    • 33746865562 scopus 로고    scopus 로고
    • Exercise capacity in a 78 year old patient with McArdle's disease: It is never too late to start exercising
    • Pérez M et al. (2006) Exercise capacity in a 78 year old patient with McArdle's disease: It is never too late to start exercising. Br J Sports Med 40: 725-726
    • (2006) Br J Sports Med , vol.40 , pp. 725-726
    • Pérez, M.1
  • 24
    • 0001154148 scopus 로고
    • Nonlysosomal glycogenoses
    • Eds Engel AG and Franzini-Armstrong C New York: McGraw-Hill
    • DiMauro S and Tsujino S (1995) Nonlysosomal glycogenoses. In Myology 1554-1556 (Eds Engel AG and Franzini-Armstrong C) New York: McGraw-Hill
    • (1995) Myology , pp. 1554-1556
    • DiMauro, S.1    Tsujino, S.2
  • 25
    • 0027457720 scopus 로고
    • Glycogenosis type V (McArdle's disease) with hyperuricemia: A case report and clinical investigation
    • Jinnai K et al. (1993) Glycogenosis type V (McArdle's disease) with hyperuricemia: A case report and clinical investigation. Eur Neurol 33: 204-207
    • (1993) Eur Neurol , vol.33 , pp. 204-207
    • Jinnai, K.1
  • 26
    • 0023256148 scopus 로고    scopus 로고
    • Myogenic hyperuricemia: A common pathophysiologic feature of glycogenosis types III, V, and VII
    • Mineo I et al. (1997) Myogenic hyperuricemia: A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med 317: 75-80
    • (1997) N Engl J Med , vol.317 , pp. 75-80
    • Mineo, I.1
  • 27
    • 23944466722 scopus 로고    scopus 로고
    • McArdle's disease and anaesthesia: Case reports: Review of potential problems and association with malignant hyperthermia
    • Bollig G et al. (2005) McArdle's disease and anaesthesia: Case reports: Review of potential problems and association with malignant hyperthermia. Acta Anaesthesiol Scand 49: 1077-1083
    • (2005) Acta Anaesthesiol Scand , vol.49 , pp. 1077-1083
    • Bollig, G.1
  • 28
    • 35448994680 scopus 로고    scopus 로고
    • McArdle disease with rhabdomyolysis induced by rosuvastatin: Case report [Portuguese]
    • Lorenzoni PJ et al. (2007) McArdle disease with rhabdomyolysis induced by rosuvastatin: Case report [Portuguese]. Arq Neuropsiquiatr 65: 834-837
    • (2007) Arq Neuropsiquiatr , vol.65 , pp. 834-837
    • Lorenzoni, P.J.1
  • 29
    • 0005463427 scopus 로고
    • A metabolic myopathy due to absence of muscle phosphorylase
    • Pearson C et al. (1961) A metabolic myopathy due to absence of muscle phosphorylase. Am J Med 30: 502-517
    • (1961) Am J Med , vol.30 , pp. 502-517
    • Pearson, C.1
  • 30
    • 0036716959 scopus 로고    scopus 로고
    • Spontaneous' second wind' and glucose-induced second' second wind' in McArdle disease: Oxidative mechanisms
    • Haller RG and Vissing J (2002) Spontaneous' second wind' and glucose-induced second' second wind' in McArdle disease: Oxidative mechanisms. Arch Neurol 59: 1395-1402
    • (2002) Arch Neurol , vol.59 , pp. 1395-1402
    • Haller, R.G.1    Vissing, J.2
  • 31
    • 0347722567 scopus 로고    scopus 로고
    • No spontaneous second wind in muscle phosphofructokinase deficiency
    • Haller RG and Vissing J (2004) No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology 62: 82-86
    • (2004) Neurology , vol.62 , pp. 82-86
    • Haller, R.G.1    Vissing, J.2
  • 32
    • 0026065196 scopus 로고
    • Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency
    • Haller RG and Lewis SF (1991) Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med 324: 364-369
    • (1991) N Engl J Med , vol.324 , pp. 364-369
    • Haller, R.G.1    Lewis, S.F.2
  • 33
    • 0141535342 scopus 로고    scopus 로고
    • A diagnostic cycle test for McArdle's disease
    • Vissing J and Haller RG (2003) A diagnostic cycle test for McArdle's disease. Ann Neurol 54: 539-542
    • (2003) Ann Neurol , vol.54 , pp. 539-542
    • Vissing, J.1    Haller, R.G.2
  • 34
    • 43649099538 scopus 로고    scopus 로고
    • Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
    • Ørngreen MC et al. (2008) Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology 70: 1872-1873
    • (2008) Neurology , vol.70 , pp. 1872-1873
    • Ørngreen, M.C.1
  • 35
    • 25144492102 scopus 로고    scopus 로고
    • Effects of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency
    • Vissing J et al. (2005) Effects of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency. Arch Neurol 62: 1440-1444
    • (2005) Arch Neurol , vol.62 , pp. 1440-1444
    • Vissing, J.1
  • 36
    • 12144249792 scopus 로고    scopus 로고
    • Muscle carnitine palmitoyltransferase II deficiency: Clinical and molecular genetic features and diagnostic aspects
    • Deschauer M et al. (2005) Muscle carnitine palmitoyltransferase II deficiency: Clinical and molecular genetic features and diagnostic aspects. Arch Neurol 62: 37-41
    • (2005) Arch Neurol , vol.62 , pp. 37-41
    • Deschauer, M.1
  • 37
    • 0035954342 scopus 로고    scopus 로고
    • Acute compartment syndrome after forearm ischemic work test in a patient with McArdle's disease
    • Lindner A et al. (2001). Acute compartment syndrome after forearm ischemic work test in a patient with McArdle's disease. Neurology 56: 1779-1780
    • (2001) Neurology , vol.56 , pp. 1779-1780
    • Lindner, A.1
  • 38
    • 0036327398 scopus 로고    scopus 로고
    • A nonischemic forearm exercise test for McArdle disease
    • Kazemi-Esfarjani P et al. (2002) A nonischemic forearm exercise test for McArdle disease. Ann Neurol 52: 153-159
    • (2002) Ann Neurol , vol.52 , pp. 153-159
    • Kazemi-Esfarjani, P.1
  • 39
    • 0016723939 scopus 로고
    • Percutaneous needle biopsy of skeletal muscle in physiological and clinical research
    • Bergström J (1975) Percutaneous needle biopsy of skeletal muscle in physiological and clinical research. Scand J Clin Lab Invest 35 609-616
    • (1975) Scand J Clin Lab Invest , vol.35 , pp. 609-616
    • Bergström, J.1
  • 40
    • 33846669808 scopus 로고    scopus 로고
    • Molecular genetics of McArdle's disease
    • Nogales-Gadea G et al. (2007) Molecular genetics of McArdle's disease. Curr Neurol Neurosci Rep 7: 84-92
    • (2007) Curr Neurol Neurosci Rep , vol.7 , pp. 84-92
    • Nogales-Gadea, G.1
  • 41
    • 33746760273 scopus 로고    scopus 로고
    • McArdle disease: The mutation spectrum of PYGM in a large Italian cohort
    • Bruno C et al. (2006) McArdle disease: The mutation spectrum of PYGM in a large Italian cohort. Hum Mutat 27: 718
    • (2006) Hum Mutat , vol.27 , pp. 718
    • Bruno, C.1
  • 42
    • 0021240538 scopus 로고
    • High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome II
    • Lebo RV et al. (1984) High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome II. Science 225: 57-59
    • (1984) Science , vol.225 , pp. 57-59
    • Lebo, R.V.1
  • 43
    • 0027302919 scopus 로고
    • McArdle's disease: A nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases
    • Bartram C et al. (1993) McArdle's disease: A nonsense mutation in exon 1 of the muscle glycogen 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
  • 44
    • 33947286132 scopus 로고    scopus 로고
    • Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: IdentificatioA of 10 new mutations: absence of genotype-phenotype correlation
    • Aquaron R et al. (2007) Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: IdentificatioA of 10 new mutations: absence of genotype-phenotype correlation. Neuromuscul Disord 17: 235-241
    • (2007) Neuromuscul Disord , vol.17 , pp. 235-241
    • Aquaron, R.1
  • 45
    • 34347366257 scopus 로고    scopus 로고
    • Analysis of spectrum and frequencies of mutations in McArdle disease: Identification of 13 novel mutations
    • Deschauer M et al. (2007) Analysis of spectrum and frequencies of mutations in McArdle disease: Identification of 13 novel mutations. J Neurol 254: 797-802
    • (2007) J Neurol , vol.254 , pp. 797-802
    • Deschauer, M.1
  • 46
    • 0034753605 scopus 로고    scopus 로고
    • Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study
    • Martin MA et al. (2000) Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study. Ann Neurol 50: 574-581
    • (2000) Ann Neurol , vol.50 , pp. 574-581
    • Martin, M.A.1
  • 47
    • 33847709954 scopus 로고    scopus 로고
    • A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients
    • Rubio JC et al. (2006) A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. Hum Mutat 28: 203-204
    • (2006) Hum Mutat , vol.28 , pp. 203-204
    • Rubio, J.C.1
  • 48
    • 0028047270 scopus 로고
    • Three new mutations in patients with myophosphorylase deficiency (McArdle disease)
    • Tsujino S et al. (1994) Three new mutations in patients with myophosphorylase deficiency (McArdle disease). Am J Hum Genet 54: 44-52
    • (1994) Am J Hum Genet , vol.54 , pp. 44-52
    • Tsujino, S.1
  • 49
    • 12944255845 scopus 로고    scopus 로고
    • A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease
    • Fernandez R et al. (2000) A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. Arch Neurol 57: 217-219
    • (2000) Arch Neurol , vol.57 , pp. 217-219
    • Fernandez, R.1
  • 50
    • 0345621626 scopus 로고    scopus 로고
    • Molecular characterization of McArdle's disease in two large Finnish families
    • Bruno C et al. (1999). Molecular characterization of McArdle's disease in two large Finnish families. J Neurol Sci 165: 121-125
    • (1999) J Neurol Sci , vol.165 , pp. 121-125
    • Bruno, C.1
  • 51
    • 0345659221 scopus 로고    scopus 로고
    • Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease
    • Fernandez-Cadenas I et al. (2003) Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease. Neurology 61: 1432-1434
    • (2003) Neurology , vol.61 , pp. 1432-1434
    • Fernandez-Cadenas, I.1
  • 52
    • 54049092150 scopus 로고    scopus 로고
    • Novel mutations inpatients with McArdle disease by analysis of skeletal muscle mRNA
    • in press
    • García-Consuegra I et al.: Novel mutations inpatients with McArdle disease by analysis of skeletal muscle mRNA. J Med Genet, in press
    • J Med Genet
    • García-Consuegra, I.1
  • 53
    • 0032870218 scopus 로고    scopus 로고
    • Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro
    • Pad G et al. (1999) Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro. Neurology 53: 1352-1354
    • (1999) Neurology , vol.53 , pp. 1352-1354
    • Pad, G.1
  • 54
    • 41549107481 scopus 로고    scopus 로고
    • Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle's disease: Expression and re-expression of glycogen phosphorylase
    • Howell JM et al. (2008) Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle's disease: Expression and re-expression of glycogen phosphorylase. Neuromuscul Disord 18 248-258
    • (2008) Neuromuscul Disord , vol.18 , pp. 248-258
    • Howell, J.M.1
  • 55
    • 38949206687 scopus 로고    scopus 로고
    • Expression of the muscle glycogen phosphorylase, gene in patients with McArdle disease: The role of nonsense-mediated mRNA decay
    • Nogales-Gadea G et al. (2008) Expression of the muscle glycogen phosphorylase, gene in patients with McArdle disease: The role of nonsense-mediated mRNA decay. Hum Mutat 29: 277-283
    • (2008) Hum Mutat , vol.29 , pp. 277-283
    • Nogales-Gadea, G.1
  • 56
    • 34247588271 scopus 로고    scopus 로고
    • PTC124 targets genetic disorders caused by nonsense mutations
    • Welch EM et al. (2007) PTC124 targets genetic disorders caused by nonsense mutations. Nature 447: 87-91
    • (2007) Nature , vol.447 , pp. 87-91
    • Welch, E.M.1
  • 57
    • 33644889412 scopus 로고    scopus 로고
    • Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency
    • Schroers A et al. (2006). Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency Neurology 66: 285-286
    • (2006) Neurology , vol.66 , pp. 285-286
    • Schroers, A.1
  • 58
    • 39749147331 scopus 로고    scopus 로고
    • Randomized, placebo-controlled, double-blind pilot trial of ramilpril in McArdle's disease
    • Martinuzzi A et al. (2008) Randomized, placebo-controlled, double-blind pilot trial of ramilpril in McArdle's disease. Muscle Nerve 37: 350-357
    • (2008) Muscle Nerve , vol.37 , pp. 350-357
    • Martinuzzi, A.1
  • 59
    • 0025677335 scopus 로고
    • Dantrolene sodium does influence the second-wind phenomenon in McArdle's disease: Electrophysiollogical evidence during exercise in a double-blind placebo-controlled, cross-over study in 5 patients
    • Poels PJ et al. (1990) Dantrolene sodium does influence the second-wind phenomenon in McArdle's disease: Electrophysiollogical evidence during exercise in a double-blind placebo-controlled, cross-over study in 5 patients. J Neurol Sci 100: 108-112
    • (1990) J Neurol Sci , vol.100 , pp. 108-112
    • Poels, P.J.1
  • 60
    • 0029874838 scopus 로고    scopus 로고
    • A double blind, placebo controlled, cross over trial of D-ribose in McArdle disease
    • Steele IC et al. (1996) A double blind, placebo controlled, cross over trial of D-ribose in McArdle disease. J Neurol Sci 136: 174-177
    • (1996) J Neurol Sci , vol.136 , pp. 174-177
    • Steele, I.C.1
  • 61
    • 0033924202 scopus 로고    scopus 로고
    • Creatine therapy in myophosphorylase deficiency (McArdle disease): A placebo-controlled crossover trial
    • Vorgerd M et al. (2002) Creatine therapy in myophosphorylase deficiency (McArdle disease): A placebo-controlled crossover trial. Arch Neurol 57: 956-963
    • (2002) Arch Neurol , vol.57 , pp. 956-963
    • Vorgerd, M.1
  • 62
    • 0036144373 scopus 로고    scopus 로고
    • Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: Double-blind, placebo-controlled crossover study
    • Vorgerd M et al. (2002) Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: Double-blind, placebo-controlled crossover study. Arch Neurol 59: 97-101
    • (2002) Arch Neurol , vol.59 , pp. 97-101
    • Vorgerd, M.1
  • 63
    • 53049093182 scopus 로고    scopus 로고
    • Carbohydrate-and protein-rich diets in McArdle disease: Effects on exercise capacity
    • doi:10.1136/jnnp.2008.146548
    • Andersen ST and Vissing J (2008) Carbohydrate-and protein-rich diets in McArdle disease: Effects on exercise capacity. J Neurol Neurosurg Psychiatry [doi:10.1136/jnnp.2008.146548]
    • (2008) J Neurol Neurosurg Psychiatry
    • Andersen, S.T.1    Vissing, J.2
  • 64
    • 0031743795 scopus 로고    scopus 로고
    • Oral branched chain amino acids do not improve exercise capacity in McArdle's disease
    • MacLean D et al. (1998) Oral branched chain amino acids do not improve exercise capacity in McArdle's disease. Neurology 51 1456-1459
    • (1998) Neurology , vol.51 , pp. 1456-1459
    • MacLean, D.1
  • 65
    • 45149131139 scopus 로고    scopus 로고
    • Effect of oral sucrose shortly before exercise on work capacity in McArdle disease
    • Andersen ST et al. (2008) Effect of oral sucrose shortly before exercise on work capacity in McArdle disease. Arch Neurol 65 786-789
    • (2008) Arch Neurol , vol.65 , pp. 786-789
    • Andersen, S.T.1
  • 66
    • 44949130865 scopus 로고    scopus 로고
    • Pharmacological and nutritional treatment for McArdle disease (glycogen storage disease type V)
    • Art. No, CD003458. doi:10.1002/ 14651858.CD003458.pub3
    • Quinlivan R et al. Pharmacological and nutritional treatment for McArdle disease (glycogen storage disease type V). Cochrane Database Systematic Reviews 2008, Issue 1. Art. No.: CD003458. doi:10.1002/ 14651858.CD003458.pub3
    • Cochrane Database Systematic Reviews , vol.2008 , Issue.1
    • Quinlivan, R.1
  • 67
    • 0025313653 scopus 로고
    • Kinetics following high protein diet in McArdle's syndrome: A 31P magnetic resonance spectroscopy study
    • Jensen KE et al. (1990) Kinetics following high protein diet in McArdle's syndrome: A 31P magnetic resonance spectroscopy study. Acta Neurol Scand 81: 499-503
    • (1990) Acta Neurol Scand , vol.81 , pp. 499-503
    • Jensen, K.E.1
  • 68
    • 0021945881 scopus 로고
    • Myopathy in McArdle's syndrome: Improvement with a high-protein diet
    • Slonim AE and Goans PJ (1985) Myopathy in McArdle's syndrome: improvement with a high-protein diet. New Engl J Med 312: 355-359
    • (1985) New Engl J Med , vol.312 , pp. 355-359
    • Slonim, A.E.1    Goans, P.J.2
  • 69
    • 0025363845 scopus 로고
    • Are high protein diets effective in McArdle's disease?
    • Kushner RF and Berman SA (1990) Are high protein diets effective in McArdle's disease? Arch Neurol 47: 383-384
    • (1990) Arch Neurol , vol.47 , pp. 383-384
    • Kushner, R.F.1    Berman, S.A.2
  • 70
    • 33744797628 scopus 로고    scopus 로고
    • Aerobic conditioning: An effective therapy in McArdle's disease
    • Haller RG et al. (2006) Aerobic conditioning: An effective therapy in McArdle's disease. Ann Neurol 59: 922-928
    • (2006) Ann Neurol , vol.59 , pp. 922-928
    • Haller, R.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.