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Volumn 28, Issue 4, 2002, Pages 759-778

Differentiating idiopathic inflammatory myopathies from metabolic myopathies

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; MITOCHONDRIAL ENZYME; UBIDECARENONE; VERY LONG CHAIN FATTY ACID;

EID: 0036866888     PISSN: 0889857X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-857X(02)00022-4     Document Type: Review
Times cited : (24)

References (85)
  • 2
    • 0034089669 scopus 로고    scopus 로고
    • Congenital and metabolic myopathies of childhood or adult onset
    • Miró O, Laaguno M, Masanés F, et al. Congenital and metabolic myopathies of childhood or adult onset. Semin Arthritis Rheum 2000;29:335-47.
    • (2000) Semin Arthritis Rheum , vol.29 , pp. 335-347
    • Miró, O.1    Laaguno, M.2    Masanés, F.3
  • 3
    • 85047697283 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and neuromuscular disease
    • Nardin RA, Johns DR. Mitochondrial dysfunction and neuromuscular disease. Muscle Nerve 2001;24:170-91.
    • (2001) Muscle Nerve , vol.24 , pp. 170-191
    • Nardin, R.A.1    Johns, D.R.2
  • 4
    • 0032980279 scopus 로고    scopus 로고
    • Mitochondrial disorders: Clinical and genetic features
    • Simon DK, Johns DR. Mitochondrial disorders: Clinical and genetic features. Annu Rev Med 1999;50:111-27.
    • (1999) Annu Rev Med , vol.50 , pp. 111-127
    • Simon, D.K.1    Johns, D.R.2
  • 5
    • 0034047562 scopus 로고    scopus 로고
    • The molecular diagnosis of metabolic myopathies
    • Vladutiu GD. The molecular diagnosis of metabolic myopathies. Neurol Clin 2000;18(1):53-104.
    • (2000) Neurol Clin , vol.18 , Issue.1 , pp. 53-104
    • Vladutiu, G.D.1
  • 6
    • 0032703508 scopus 로고    scopus 로고
    • Metabolic and mitochondrial myopathies
    • Wortmann RL. Metabolic and mitochondrial myopathies. Curr Opin Rheumatol 1999;11(6):462-7.
    • (1999) Curr Opin Rheumatol , vol.11 , Issue.6 , pp. 462-467
    • Wortmann, R.L.1
  • 7
    • 0012186232 scopus 로고    scopus 로고
    • Metabolic disease of muscle
    • Wortmann RL, editor. Philadelphia: Lippincott, Williams & Wilkins
    • Wortmann RL. Metabolic disease of muscle. In: Wortmann RL, editor. Diseases of Skeletal Muscle. Philadelphia: Lippincott, Williams & Wilkins; 2000. p. 157-87.
    • (2000) Diseases of Skeletal Muscle , pp. 157-187
    • Wortmann, R.L.1
  • 8
    • 0024787887 scopus 로고
    • Myositis or myopathy
    • Wortmann RL. Myositis or myopathy. J Rheumatol 1989;16(12):1525-7.
    • (1989) J Rheumatol , vol.16 , Issue.12 , pp. 1525-1527
    • Wortmann, R.L.1
  • 9
    • 0001847351 scopus 로고    scopus 로고
    • Skeletal muscle biology, physiology, and biochemistry
    • Wortmann RL, editor. Philadelphia: Lippincott, Williams & Wilkins
    • Wortmann RL. Skeletal muscle biology, physiology, and biochemistry. In: Wortmann RL, editor. Diseases of Skeletal Muscle. Philadelphia: Lippincott, Williams & Wilkins; 2000. p. 11-22.
    • (2000) Diseases of Skeletal Muscle , pp. 11-22
    • Wortmann, R.L.1
  • 11
    • 0023920157 scopus 로고
    • Late-onset muscle phosphofructokinase deficiency
    • Danon MJ, Servidei S, DiMauro S, et al. Late-onset muscle phosphofructokinase deficiency. Neurology 1988;38(6):956-60.
    • (1988) Neurology , vol.38 , Issue.6 , pp. 956-960
    • Danon, M.J.1    Servidei, S.2    DiMauro, S.3
  • 12
    • 0016850495 scopus 로고
    • Polymyositis and dermatomyositis
    • Bohan A, Peter JB. Polymyositis and dermatomyositis. N Engl J Med 1975;292:344-407.
    • (1975) N Engl J Med , vol.292 , pp. 344-407
    • Bohan, A.1    Peter, J.B.2
  • 13
    • 0017640201 scopus 로고
    • A computer-assisted analysis of 153 patients with polymyositis and dermatomyositis
    • Bohan A, Peter JB, Bowman RL, et al. A computer-assisted analysis of 153 patients with polymyositis and dermatomyositis. Medicine (Baltimore) 1977;56:255-86.
    • (1977) Medicine (Baltimore) , vol.56 , pp. 255-286
    • Bohan, A.1    Peter, J.B.2    Bowman, R.L.3
  • 14
    • 0024805328 scopus 로고
    • McArdle's disease presenting as treatment resistant polymyositis
    • Higgs JB, Blaivas M, Albers JW. McArdle's disease presenting as treatment resistant polymyositis. J Rheumatol 1989;16:1587-90.
    • (1989) J Rheumatol , vol.16 , pp. 1587-1590
    • Higgs, J.B.1    Blaivas, M.2    Albers, J.W.3
  • 15
    • 0025295064 scopus 로고
    • The molecular pathology of respiratory chain dysfunction in human mitochondrial myopathies
    • Morgan-Hughes JA, Schapira AH, Cooper JM, et al. The molecular pathology of respiratory chain dysfunction in human mitochondrial myopathies. Biochem Biophys Acta 1990;1018:217-22.
    • (1990) Biochem Biophys Acta , vol.1018 , pp. 217-222
    • Morgan-Hughes, J.A.1    Schapira, A.H.2    Cooper, J.M.3
  • 16
    • 0001477535 scopus 로고
    • Patterns of polymyositis and their response to treatment
    • Pearson CM. Patterns of polymyositis and their response to treatment. Ann Intern Med 1963;59(6):827-38.
    • (1963) Ann Intern Med , vol.59 , Issue.6 , pp. 827-838
    • Pearson, C.M.1
  • 17
    • 0025261098 scopus 로고
    • Metabolic causes of myoglobinuria
    • Ionin P, Lewis P, Servidei S, et al. Metabolic causes of myoglobinuria. Ann Neurol 1990;27:181-5.
    • (1990) Ann Neurol , vol.27 , pp. 181-185
    • Ionin, P.1    Lewis, P.2    Servidei, S.3
  • 18
    • 0020514693 scopus 로고
    • Congenital myopathy due to phosphorylase deficiency
    • Comelio F, Bresolin N, DiMauro S, et al. Congenital myopathy due to phosphorylase deficiency. Neurology 1983;33:1383-5.
    • (1983) Neurology , vol.33 , pp. 1383-1385
    • Comelio, F.1    Bresolin, N.2    DiMauro, S.3
  • 19
    • 0022973083 scopus 로고
    • The second wind phenomenon in McArdle's disease
    • Braakhakke JP, de Bruin MI, Stegeman DF, et al. The second wind phenomenon in McArdle's disease. Brain 1986;109:1087-101.
    • (1986) Brain , vol.109 , pp. 1087-1101
    • Braakhakke, J.P.1    De Bruin, M.I.2    Stegeman, D.F.3
  • 20
    • 0018086688 scopus 로고
    • Fatal infantile form of muscle phosphorylase deficiency
    • DiMauro S, Hartlage P. Fatal infantile form of muscle phosphorylase deficiency. Neurology 1978;28:1124-9.
    • (1978) Neurology , vol.28 , pp. 1124-1129
    • DiMauro, S.1    Hartlage, P.2
  • 21
    • 0030936525 scopus 로고    scopus 로고
    • Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency
    • El-Schahawi M, Bruno C, Tsujino S, et al. Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency. Neuromuscul Disord 1997;7:81-3.
    • (1997) Neuromuscul Disord , vol.7 , pp. 81-83
    • El-Schahawi, M.1    Bruno, C.2    Tsujino, S.3
  • 22
  • 23
    • 0001154148 scopus 로고
    • Nonlysosomal glycogenoses
    • Engel AG, Franzini-Armstrong C, editors. New York: McGraw-Hill
    • DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In: Engel AG, Franzini-Armstrong C, editors. Myology. 2nd Edition. New York: McGraw-Hill; 1994. p. 1554-76.
    • (1994) Myology. 2nd Edition , pp. 1554-1576
    • DiMauro, S.1    Tsujino, S.2
  • 24
    • 0019613898 scopus 로고
    • Muscle phosphofructokinase deficiency: Abnormal polysaccharide in a case of late-onset myopathy
    • Hays AP, Hallett M, Delfs J, et al. Muscle phosphofructokinase deficiency: Abnormal polysaccharide in a case of late-onset myopathy. Neurology 1981;31:1077-86.
    • (1981) Neurology , vol.31 , pp. 1077-1086
    • Hays, A.P.1    Hallett, M.2    Delfs, J.3
  • 25
    • 0029974752 scopus 로고    scopus 로고
    • Late-onset muscle weakness in partial phosphofructokinase deficiency: A unique myopathy with vacuolar, abnormal mitochondria, and an absence of the common exon 5/intron5 junction point mutation
    • Sivakumar J, Vasconeelos O, Goldfarb L, et al. Late-onset muscle weakness in partial phosphofructokinase deficiency: A unique myopathy with vacuolar, abnormal mitochondria, and an absence of the common exon 5/intron5 junction point mutation. Neurology 1996;46:1337-42.
    • (1996) Neurology , vol.46 , pp. 1337-1342
    • Sivakumar, J.1    Vasconeelos, O.2    Goldfarb, L.3
  • 26
    • 0026065196 scopus 로고
    • Glucose-induces exertional fatigue in muscle phosphofructokinase deficiency
    • Haller RG, Lewis SF. Glucose-induces exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med 1991;324:364-9.
    • (1991) N Engl J Med , vol.324 , pp. 364-369
    • Haller, R.G.1    Lewis, S.F.2
  • 27
    • 0028213562 scopus 로고
    • Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency
    • Wilkinson DA, Tonin P, Shanske S, et al. Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. Neurology 1994;44:461-6.
    • (1994) Neurology , vol.44 , pp. 461-466
    • Wilkinson, D.A.1    Tonin, P.2    Shanske, S.3
  • 28
    • 0020689478 scopus 로고
    • Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria
    • DiMauro S, Dalakas M, Miranda AF. Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria. Ann Neurol 1983;13:11-9.
    • (1983) Ann Neurol , vol.13 , pp. 11-19
    • DiMauro, S.1    Dalakas, M.2    Miranda, A.F.3
  • 29
    • 0034646435 scopus 로고    scopus 로고
    • Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation
    • Hamano T, Mutoh T, Sugie H, et al. Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation. Neurology 2000;54:1188-90.
    • (2000) Neurology , vol.54 , pp. 1188-1190
    • Hamano, T.1    Mutoh, T.2    Sugie, H.3
  • 30
    • 37049183458 scopus 로고
    • Human muscle phosphoglycerate mutase deficiency: Newly discovered metabolic myopathy
    • DiMauro S, Miranda AF, Khan S, et al. Human muscle phosphoglycerate mutase deficiency: Newly discovered metabolic myopathy. Science 1981;212:1277-9.
    • (1981) Science , vol.212 , pp. 1277-1279
    • DiMauro, S.1    Miranda, A.F.2    Khan, S.3
  • 31
    • 0019200918 scopus 로고
    • Hereditary deficiency of lactate dehydrogenase M-subunit
    • Kanno T, Sudo K, Takeuchi I, et al. Hereditary deficiency of lactate dehydrogenase M-subunit. Clin Chim Acta 1980;108:267-76.
    • (1980) Clin Chim Acta , vol.108 , pp. 267-276
    • Kanno, T.1    Sudo, K.2    Takeuchi, I.3
  • 32
    • 15844367096 scopus 로고    scopus 로고
    • Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
    • Kreuder J, Borkhardt A, Repp R, et al. Inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med 1996;334:1100-4.
    • (1996) N Engl J Med , vol.334 , pp. 1100-1104
    • Kreuder, J.1    Borkhardt, A.2    Repp, R.3
  • 33
    • 0001257415 scopus 로고    scopus 로고
    • B-enolase deficiency, a new metabolic myopathy of distal glycolysis
    • Comi GP, Fortunato F, Lucchiari S, et al. B-enolase deficiency, a new metabolic myopathy of distal glycolysis. Neurology 2001;56(Suppl 3):A231-2.
    • (2001) Neurology , vol.56 , Issue.SUPPL. 3
    • Comi, G.P.1    Fortunato, F.2    Lucchiari, S.3
  • 34
    • 0001216507 scopus 로고
    • Acid maltase deficiency
    • Engel AG, Franzini-Armstrong C, editors. New York: McGraw-Hill
    • Engel AG, Hirschom R. Acid maltase deficiency. In: Engel AG, Franzini-Armstrong C, editors. Myology. 2nd Edition. New York: McGraw-Hill; 1994. p. 1533-76.
    • (1994) Myology. 2nd Edition , pp. 1533-1576
    • Engel, A.G.1    Hirschom, R.2
  • 35
    • 0033837749 scopus 로고    scopus 로고
    • Identification of two subtypes of infantile acid maltase deficiency
    • Slonim AE, Balone L, Ritz S, et al. Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 2000;137:283-5.
    • (2000) J Pediatr , vol.137 , pp. 283-285
    • Slonim, A.E.1    Balone, L.2    Ritz, S.3
  • 36
    • 0029965060 scopus 로고    scopus 로고
    • A mild adult myopathic variant of type IV glycogenosis
    • Bomemann A, Besser R, Shin YS, et al. A mild adult myopathic variant of type IV glycogenosis. Neuromuscul Disord 1996;6:95-9.
    • (1996) Neuromuscul Disord , vol.6 , pp. 95-99
    • Bomemann, A.1    Besser, R.2    Shin, Y.S.3
  • 37
    • 0026600156 scopus 로고
    • A mild juvenile variant of type IV glycogenosis
    • Reusche E, Aksu F, Goebel HH, et al. A mild juvenile variant of type IV glycogenosis. Brain Dev 1992;14:36-43.
    • (1992) Brain Dev , vol.14 , pp. 36-43
    • Reusche, E.1    Aksu, F.2    Goebel, H.H.3
  • 38
    • 0018423953 scopus 로고
    • Debrancher deficiency: Neuromuscular disorder in five adults
    • DiMauro S, Hartwig GB, Hays AP, et al. Debrancher deficiency: Neuromuscular disorder in five adults. Ann Neurol 1979;5:422-36.
    • (1979) Ann Neurol , vol.5 , pp. 422-436
    • DiMauro, S.1    Hartwig, G.B.2    Hays, A.P.3
  • 40
    • 0024463090 scopus 로고
    • Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers
    • Marbini A, Gemignani F, Saccardi F, et al. Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers. J Neurol 1989;236:418-20.
    • (1989) J Neurol , vol.236 , pp. 418-420
    • Marbini, A.1    Gemignani, F.2    Saccardi, F.3
  • 41
    • 0018854186 scopus 로고
    • Camitine levels in normal children and adults and in patients with diseased muscle
    • Carrier HM, Berhillier G. Camitine levels in normal children and adults and in patients with diseased muscle. Muscle Nerve 1990;3:326-34.
    • (1990) Muscle Nerve , vol.3 , pp. 326-334
    • Carrier, H.M.1    Berhillier, G.2
  • 42
    • 0022464411 scopus 로고
    • Camitine metabolism and function in humans
    • Rebouche CJ, Paulson DJ. Camitine metabolism and function in humans. Annu Rev Nutr 1986;6:41-66.
    • (1986) Annu Rev Nutr , vol.6 , pp. 41-66
    • Rebouche, C.J.1    Paulson, D.J.2
  • 43
    • 0021633607 scopus 로고
    • Short-chain acyl-CoA dehydrogenase deficiency associated with lipid-storage myopathy and secondary camitine deficiency
    • Turnbull DM, Bartlett K, Stevens DL, et al. Short-chain acyl-CoA dehydrogenase deficiency associated with lipid-storage myopathy and secondary camitine deficiency. N Engl J Med 1984;311(19):1232-6.
    • (1984) N Engl J Med , vol.311 , Issue.19 , pp. 1232-1236
    • Turnbull, D.M.1    Bartlett, K.2    Stevens, D.L.3
  • 44
    • 0021873302 scopus 로고
    • Long-chain acyl-CoA dehydrogenase deficiency: An inherited cause of non-ketotic hypoglycemia
    • Hale DE, Batshaw ML, Coates PM, et al. Long-chain acyl-CoA dehydrogenase deficiency: An inherited cause of non-ketotic hypoglycemia. Pediatr Res 1985;19:666-71.
    • (1985) Pediatr Res , vol.19 , pp. 666-671
    • Hale, D.E.1    Batshaw, M.L.2    Coates, P.M.3
  • 45
    • 25344454396 scopus 로고
    • Long-chain acyl-CoA dehydrogenase deficiency in muscle in an adult with lipid myopathy
    • DiDonato S, Taroni F, Gellera C, et al. Long-chain acyl-CoA dehydrogenase deficiency in muscle in an adult with lipid myopathy. Neurology 1988;38:269A-71A.
    • (1988) Neurology , vol.38
    • DiDonato, S.1    Taroni, F.2    Gellera, C.3
  • 46
    • 0023694861 scopus 로고
    • Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities
    • Turnbull DM, Shepherd IM, Ashworth B, et al. Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities. Brain 1988;111:815-28.
    • (1988) Brain , vol.111 , pp. 815-828
    • Turnbull, D.M.1    Shepherd, I.M.2    Ashworth, B.3
  • 47
    • 0022365334 scopus 로고
    • Mitochondrial myopathy: A result of clofibrate/etiofibrate treatment?
    • Bardosi A, Scheidt P, Goebel H. Mitochondrial myopathy: A result of clofibrate/etiofibrate treatment? Acta Neuropathol (Berl) 1985;68:164-8.
    • (1985) Acta Neuropathol (Berl) , vol.68 , pp. 164-168
    • Bardosi, A.1    Scheidt, P.2    Goebel, H.3
  • 48
    • 0028204434 scopus 로고
    • Determination of the blood lactate: Pyruvate ratio as a noninvasive test for the diagnosis of zidovudine myopathy
    • Chariot P, Monnet I, Mouchet M, et al. Determination of the blood lactate: Pyruvate ratio as a noninvasive test for the diagnosis of zidovudine myopathy. Arthritis Rheum 1994;37:583-6.
    • (1994) Arthritis Rheum , vol.37 , pp. 583-586
    • Chariot, P.1    Monnet, I.2    Mouchet, M.3
  • 49
    • 0024521381 scopus 로고
    • Studies on the inhibition of mitochondrial DNA replication by 3′azido-3′-deoxythymidine and other dideoxynucleoside analogs which inhibit HIV-I replication
    • Simpson MV, Chin CD, Keilbaugh SA, et al. Studies on the inhibition of mitochondrial DNA replication by 3′azido-3′-deoxythymidine and other dideoxynucleoside analogs which inhibit HIV-I replication. Biochem Pharm 1989;38:1033-6.
    • (1989) Biochem Pharm , vol.38 , pp. 1033-1036
    • Simpson, M.V.1    Chin, C.D.2    Keilbaugh, S.A.3
  • 50
    • 0031044461 scopus 로고    scopus 로고
    • Polymyositis with cytochrome oxidase negative muscle fibers: Early quadriceps weakness and poor response to immunosuppressive therapy
    • Blume G, Pestronk A, Frank B, et al. Polymyositis with cytochrome oxidase negative muscle fibers: Early quadriceps weakness and poor response to immunosuppressive therapy. Brain 1997;120:39-45.
    • (1997) Brain , vol.120 , pp. 39-45
    • Blume, G.1    Pestronk, A.2    Frank, B.3
  • 51
    • 0026542453 scopus 로고
    • Polymyalgia rheumatica and mitochondrial myopathy: Clinicopathologic and biochemical studies in five cases
    • Harle JR, Pellissier JF, Desnuelle C, et al. Polymyalgia rheumatica and mitochondrial myopathy: Clinicopathologic and biochemical studies in five cases. Am J Med 1992;92:167-72.
    • (1992) Am J Med , vol.92 , pp. 167-172
    • Harle, J.R.1    Pellissier, J.F.2    Desnuelle, C.3
  • 52
    • 0031762747 scopus 로고    scopus 로고
    • Inflammatory myopathy with cytochrome oxidase negative muscle fibers: Methotrexate treatment
    • Levine TD, Pestronk A. Inflammatory myopathy with cytochrome oxidase negative muscle fibers: Methotrexate treatment. Muscle Nerve 1998;21:1724-8.
    • (1998) Muscle Nerve , vol.21 , pp. 1724-1728
    • Levine, T.D.1    Pestronk, A.2
  • 53
    • 0029019593 scopus 로고
    • Mitochondrial DNA deletions in muscle fibers in inclusion body myositis
    • Oldfors A, Moselemi RA, Fyhr IM, et al. Mitochondrial DNA deletions in muscle fibers in inclusion body myositis. J Neuropathol Exp Neurol 1995;54:581-7.
    • (1995) J Neuropathol Exp Neurol , vol.54 , pp. 581-587
    • Oldfors, A.1    Moselemi, R.A.2    Fyhr, I.M.3
  • 54
    • 0029068946 scopus 로고
    • Sarcoid myopathy and mitochondrial respiratory chain defects: Clinicopathological, biochemical, and molecular biological analyses
    • Reichmann H, Schalke B, Seibel P, et al. Sarcoid myopathy and mitochondrial respiratory chain defects: Clinicopathological, biochemical, and molecular biological analyses. Neuromuscul Disord 1995;5:277-83.
    • (1995) Neuromuscul Disord , vol.5 , pp. 277-283
    • Reichmann, H.1    Schalke, B.2    Seibel, P.3
  • 55
    • 0015374330 scopus 로고
    • Familial mitochondrial myopathy. Part I. Clinical, electrophysiological and pathological findings
    • Hudgson P, Bradley W, Jenkinson M. Familial mitochondrial myopathy. Part I. Clinical, electrophysiological and pathological findings. J Neurol Sci 1974;16:343-70.
    • (1974) J Neurol Sci , vol.16 , pp. 343-370
    • Hudgson, P.1    Bradley, W.2    Jenkinson, M.3
  • 56
    • 0015968932 scopus 로고
    • Oculopharyngeal muscular dystrophy: A case with abnormal mitochondrial and fingerprint inclusions
    • Julien V, Vital C, Vallat J, et al. Oculopharyngeal muscular dystrophy: A case with abnormal mitochondrial and fingerprint inclusions. J Neurol Sci 1974;21:164-9.
    • (1974) J Neurol Sci , vol.21 , pp. 164-169
    • Julien, V.1    Vital, C.2    Vallat, J.3
  • 57
    • 0028952052 scopus 로고
    • Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients
    • Jackson MJ, Schaefer JA, Johnson MA, et al. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain 1995;118:339-57.
    • (1995) Brain , vol.118 , pp. 339-357
    • Jackson, M.J.1    Schaefer, J.A.2    Johnson, M.A.3
  • 58
    • 0023003310 scopus 로고
    • The clinical features of mitochondrial myopathy
    • Petty RK, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986;109:915-38.
    • (1986) Brain , vol.109 , pp. 915-938
    • Petty, R.K.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 59
    • 0022344135 scopus 로고
    • The retinal manifestations of mitochondrial myopathy. A study of 22 cases
    • Mullie MA, Harding AE, Petty RK, et al. The retinal manifestations of mitochondrial myopathy. A study of 22 cases. Arch Ophthalmol 1985;103:1825-30.
    • (1985) Arch Ophthalmol , vol.103 , pp. 1825-1830
    • Mullie, M.A.1    Harding, A.E.2    Petty, R.K.3
  • 60
    • 0030570779 scopus 로고    scopus 로고
    • A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy
    • Nishino I, Seki A, Maegaki Y, et al. A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. Biochem Biophys Res Commun 1996;225:180-5.
    • (1996) Biochem Biophys Res Commun , vol.225 , pp. 180-185
    • Nishino, I.1    Seki, A.2    Maegaki, Y.3
  • 61
    • 0031589154 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T)
    • Shaag A, Saada A, Steinberg A, et al. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T). Biochem Biophys Res Commun 1997;233:637-9.
    • (1997) Biochem Biophys Res Commun , vol.233 , pp. 637-639
    • Shaag, A.1    Saada, A.2    Steinberg, A.3
  • 63
    • 0027525492 scopus 로고
    • Mitochondrial encephalomyopathies
    • DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-208.
    • (1993) Arch Neurol , vol.50 , pp. 1197-1208
    • DiMauro, S.1    Moraes, C.T.2
  • 64
  • 65
    • 0012154920 scopus 로고    scopus 로고
    • Rhabdomyolysis
    • Wortmann RL, editor. Philadelphia: Lippincott, Williams & Wilkins
    • Bolin Jr P. Rhabdomyolysis. In: Wortmann RL, editor. Diseases of Skeletal Muscle. Philadelphia: Lippincott, Williams & Wilkins; 2000. p. 245-52.
    • (2000) Diseases of Skeletal Muscle , pp. 245-252
    • Bolin P., Jr.1
  • 66
    • 0029744874 scopus 로고    scopus 로고
    • Metabolic intermediates in lactic acidosis: Compounds, samples, and interpretation
    • Poggi-Travert F, Martin D, Billette de Villemeur T, et al. Metabolic intermediates in lactic acidosis: Compounds, samples, and interpretation. J Inher Metab Dis 1996;19:478-88.
    • (1996) J Inher Metab Dis , vol.19 , pp. 478-488
    • Poggi-Travert, F.1    Martin, D.2    Billette de Villemeur, T.3
  • 67
    • 0023236216 scopus 로고
    • Myoadenylate deaminase deficiency and forearm ischemic exercise testing
    • Valen PA, Nakayama DA, Veum J, et al. Myoadenylate deaminase deficiency and forearm ischemic exercise testing. Arthritis Rheum 1987;30:661-8.
    • (1987) Arthritis Rheum , vol.30 , pp. 661-668
    • Valen, P.A.1    Nakayama, D.A.2    Veum, J.3
  • 68
    • 0026642190 scopus 로고
    • Molecular basis of AMP deaminase deficiency in skeletal muscle
    • Morisaki T, Gross M, Morisaki H, et al. Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci USA 1992;89:6457-61.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 6457-6461
    • Morisaki, T.1    Gross, M.2    Morisaki, H.3
  • 69
    • 0012158398 scopus 로고    scopus 로고
    • Electrophysiologic evaluation of muscle disease
    • Wortmann RL, editor. Philadelphia: Lippincott, Williams & Wilkins
    • Mahowald ML, David WS. Electrophysiologic evaluation of muscle disease. In: Wortmann RL, editor. Diseases of Skeletal Muscle. Philadelphia: Lippincott, Williams & Wilkins; 2000. p. 313-31.
    • (2000) Diseases of Skeletal Muscle , pp. 313-331
    • Mahowald, M.L.1    David, W.S.2
  • 70
    • 0035432233 scopus 로고    scopus 로고
    • The clinical laboratory evaluation of the patient with noninflammatory myopathy
    • Wortmann RL, Vladutiu GD. The clinical laboratory evaluation of the patient with noninflammatory myopathy. Curr Rheumatol Reports 2001;3:1-7.
    • (2001) Curr Rheumatol Reports , vol.3 , pp. 1-7
    • Wortmann, R.L.1    Vladutiu, G.D.2
  • 71
    • 0026030430 scopus 로고
    • American Association of Electrodiagnostic Medicine case report #22: Polymyositis
    • Robinson LR. American Association of Electrodiagnostic Medicine case report #22: Polymyositis. Muscle Nerve 1991;14(4):310-5.
    • (1991) Muscle Nerve , vol.14 , Issue.4 , pp. 310-315
    • Robinson, L.R.1
  • 72
    • 0012119237 scopus 로고    scopus 로고
    • Skeletal muscle imaging for the evaluation of myopathies
    • Wortmann RL, editor. Philadelphia: Lippincott, Williams & Wilkins
    • Park JH, Olsen NG. Skeletal muscle imaging for the evaluation of myopathies. In: Wortmann RL, editor. Diseases of Skeletal Muscle. Philadelphia: Lippincott, Williams & Wilkins; 2000. p. 293-312.
    • (2000) Diseases of Skeletal Muscle , pp. 293-312
    • Park, J.H.1    Olsen, N.G.2
  • 73
    • 0024451357 scopus 로고
    • Magnetic resonance imaging of muscle injury and atrophy in glycolytic myopathies
    • Fleckenstein JL, Peshock RM, Lewis SF, et al. Magnetic resonance imaging of muscle injury and atrophy in glycolytic myopathies. Muscle Nerve 1989;12:849-55.
    • (1989) Muscle Nerve , vol.12 , pp. 849-855
    • Fleckenstein, J.L.1    Peshock, R.M.2    Lewis, S.F.3
  • 74
    • 0025899071 scopus 로고
    • Absence of exercise-induced MRI enhancement of skeletal muscle in McArdle's disease
    • Fleckenstein JL, Haller RG, Lewis SF, et al. Absence of exercise-induced MRI enhancement of skeletal muscle in McArdle's disease. J Appl Physiol 1991;71:961-9.
    • (1991) J Appl Physiol , vol.71 , pp. 961-969
    • Fleckenstein, J.L.1    Haller, R.G.2    Lewis, S.F.3
  • 75
    • 0000091858 scopus 로고
    • Focal muscle lesions in mitochondrial myopathy: MR imaging and evaluation
    • Fleckenstein JL, Haller RG, Girson MS, et al. Focal muscle lesions in mitochondrial myopathy: MR imaging and evaluation. J Magn Reson Imaging 1992;2 [Suppl]:121.
    • (1992) J Magn Reson Imaging , vol.2 , Issue.SUPPL. , pp. 121
    • Fleckenstein, J.L.1    Haller, R.G.2    Girson, M.S.3
  • 76
    • 0025787713 scopus 로고
    • Evaluation of the lumbar spine in patients with glycogen storage disease: CT demonstration of patterns of paraspinal muscle atrophy
    • Cinnamon J, Slonim AE, Black KS, et al. Evaluation of the lumbar spine in patients with glycogen storage disease: CT demonstration of patterns of paraspinal muscle atrophy. Am J Neuroradiol 1991;12:1099-103.
    • (1991) Am J Neuroradiol , vol.12 , pp. 1099-1103
    • Cinnamon, J.1    Slonim, A.E.2    Black, K.S.3
  • 77
    • 0031905326 scopus 로고    scopus 로고
    • Muscle computed tomography in adult-onset acid maltase deficiency
    • de Jager AE, van der Vliet TM, van der Ree TC, et al. Muscle computed tomography in adult-onset acid maltase deficiency. Muscle Nerve 1998;21:398-400.
    • (1998) Muscle Nerve , vol.21 , pp. 398-400
    • De Jager, A.E.1    Van der Vliet, T.M.2    Van der Ree, T.C.3
  • 78
    • 0003030961 scopus 로고    scopus 로고
    • Muscle biopsy
    • Wortmann RL, editor. Philadelphia: Lippincott, Williams & Wilkins
    • Bossen EH. Muscle biopsy. In: Wortmann RL, editor. Diseases of Skeletal Muscle. Philadelphia: Lippincott, Williams & Wilkins; 2000. p. 333-48.
    • (2000) Diseases of Skeletal Muscle , pp. 333-348
    • Bossen, E.H.1
  • 79
    • 0000780544 scopus 로고
    • The muscle biopsy
    • Engel AG, Franzini-Armstrong C, editors. New York: McGraw-Hill
    • Engel AG. The muscle biopsy. In: Engel AG, Franzini-Armstrong C, editors. Myology. 2nd Edition. New York: McGraw-Hill; 1994. p. 822-31.
    • (1994) Myology. 2nd Edition , pp. 822-831
    • Engel, A.G.1
  • 80
    • 0017868356 scopus 로고
    • McArdle disease: The mystery of reappearing phosphorylase activity in muscle culture. A fetal isoenzyme
    • DiMauro S, Arnold S, Miranda AF, et al. McArdle disease: The mystery of reappearing phosphorylase activity in muscle culture. A fetal isoenzyme. Ann Neurol 1978;3:60-6.
    • (1978) Ann Neurol , vol.3 , pp. 60-66
    • DiMauro, S.1    Arnold, S.2    Miranda, A.F.3
  • 81
    • 0023717111 scopus 로고
    • Disorders of the mitochondrial respiratory chain: Clinical manifestations and diagnostic approach
    • Trijbels JMF, Sengers RCA, Ruitenbeek W, et al. Disorders of the mitochondrial respiratory chain: Clinical manifestations and diagnostic approach. Eur J Pediatr 1988;148:92-7.
    • (1988) Eur J Pediatr , vol.148 , pp. 92-97
    • Trijbels, J.M.F.1    Sengers, R.C.A.2    Ruitenbeek, W.3
  • 82
    • 0028021292 scopus 로고
    • Reference charts for respiratory chain activities in human tissues
    • Chretien D, Rustin P, Bourgeron T, et al. Reference charts for respiratory chain activities in human tissues. Clin Chim Acta 1994;228:53-70.
    • (1994) Clin Chim Acta , vol.228 , pp. 53-70
    • Chretien, D.1    Rustin, P.2    Bourgeron, T.3
  • 83
    • 0025126453 scopus 로고
    • Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies
    • Zheng X, Shoffner JM, Voljavec AS, et al. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochem Biophys Acta 1990;1019:1-10.
    • (1990) Biochem Biophys Acta , vol.1019 , pp. 1-10
    • Zheng, X.1    Shoffner, J.M.2    Voljavec, A.S.3
  • 84
    • 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, Edwards R, Clague J, et al. McArdle's disease: A nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet 1993;2:1291-3.
    • (1993) Hum Mol Genet , vol.2 , pp. 1291-1293
    • Bartram, C.1    Edwards, R.2    Clague, J.3
  • 85
    • 0029809426 scopus 로고    scopus 로고
    • Diagnosis of McArdle's disease by molecular genetic analysis of blood
    • El-Schahawi M, Tsujino S, Shanske S, et al. Diagnosis of McArdle's disease by molecular genetic analysis of blood. Neurology 1996;47:579-80.
    • (1996) Neurology , vol.47 , pp. 579-580
    • El-Schahawi, M.1    Tsujino, S.2    Shanske, S.3


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