Summary
After the discovery in 1959 of myophosphorylase deficiency, at least 15 myopathies due to deficiency of enzymes involved in energy substrate utilization have been described. In this review two main categories of enzymopathies, glycogenosis and mitochondrial disorders, are discussed. Clinically, the patients with these categories of enzyme defects present two major syndromes: (a) acute recurrent muscle impairment, generally related to exercise, associated with cramps and/or myoglobinuria; (b) progressive muscular weakness and wasting eventually associated with signs of affected organs other than skeletal muscle. Defects of glycogen breakdown and of the first step of glycolysis are more frequently associated with acute exercise intolerance, such as in myophosphorylase and phosphofructokinase deficiencies, but may be associated with progressive muscle weakness and wasting, such as in acid maltase and debrancher enzyme deficiency. Clinical heterogeneity is common in these disorders, but a biochemical explanation for their different clinical expression is still lacking. Defects of the second step of glycolysis, phosphoglycerate kinase, phosphoglycerate mutase and lactate dehydrogenase deficiencies, have been discovered recently and are associated with exercise intolerance. The reason for muscle weakness and atrophy in glycogenosis is still unclear, although it has been suggested that excessive protein catabolism occurs in myophosphorylase, debrancher and acid maltase deficiencies. Myopathies due to deficiencies of mitochondrial enzymes are less well defined, as a group, than the glycogenoses. They are currently considered to fall into three main groups: (a) defects of substrate utilization, such as carnitine palmitoyltransferase deficiency; (b) defects of respiratory chain complexes, such as cytochrome-c-oxidase deficiency and (c) defects of phosphorylation-respiration coupling, such as Luft's disease. Again, severe and benign exercise intolerance or progressive life-threatening myopathic syndromes may be the clinical expression of these disorders. Detailed biochemical and morphological studies of muscle biopsies are needed in these patients to obtain a definite diagnosis and prognosis, and to decide on eventual treatment.
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References
Agamanolis DP, Askari AD, Di Mauro S, Hays AP, Kumar K, Lipton M, Raynor A (1980) Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein. Muscle Nerve 3:456
Angelini C, Engel AG (1972) Comparative study of acid maltase deficiency: biochemical differences between infantile, childhood, and adult types. Arch Neurol 26:344
Bank WJ, Di Mauro S, Bonilla E, Capuzzi DM, Rowland LP (1975) A disorder of muscle lipid metabolism and myoglobinuria. N Engl J Med 292:443–449
Bergstrom JD, Reitz RC (1980) Studies on carnitine palmitoyltransferase: the similar nature of CPT (inner form) and CPT (outer form). Arch Biochem Biophys 204:71–79
Bertagnolio B, Di Donato S, Peluchetti D, Rimoldi M, Storchi G, Cornelio F (1978) Acid maltase deficiency in adults — clinical morphological and biochemical study of 3 patients. Eur Neurol 17:193–204
Blass JP (1979) Disorders of pyruvate metabolism. Neurology (Minneap) 29:280–286
Boone CM, Chen TR, Ruddle FH (1972) Assignment of LDH-A locus in man to chromosome c-11 using somatic cell hybrids. Proc Natl Acad Sci USA 69:510
Bougnéres PF, Saudubray JM, Marsac C, Bernard O, Odievre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyltransferase deficiency. J Pediatr 98:742–746
Boustamy RN, Aprille JR, Halperin J, Levy H, De Long GR (1983) Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann Neurol 14:462–470
Bresolin N, Ro YI, Reyes M, Miranda AF, Di Mauro S (1983) Muscle phosphoglycerate mutase (PGAM) deficiency: a second case. Neurology (Cleveland) 33:1049–1053
Bresolin N, Miranda A, Chang HW, Shanske S, Di Mauro S (1984) Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme. Muscle Nerve 7:542–551
Chalmers RA, Roe RC, Tracey BM, Stacey TE, Hoppel CL, Millington DS (1983) Secondary carnitine insufficiency in disorders of organic acid metabolism. Modulation of acylCoA/CoA ratios by L-carnitine in vivo. Biochem Soc Trans 11:724
Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shug AL, Cederblaum SD (1980) Systemic carnitine deficiency: a treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med 303:1389–1394
Chayoth R, Moses SW, Steinitz K (1967) Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. Isr J Med Sci 3:422–426
Chen SH, Giblett E (1972) Phosphoglycerate kinase: additional variants and their geographic distribution. Am J Hum Genet 24:229–230
Chen SH, Malcon LA, Yoshida A, Giblett E (1971) Phosphoglycerate kinase: an X-linked polymorphism in man. Am J Hum Genet 23:87–91
Cori GT (1954) Glycogen structure and enzyme deficiencies in glycogen storage disease. Harvey Lect 48:145–171
Cornelio F, Di Donato S, Peluchetti D, Bizzi A, Bertagnolio B, D'Angelo A, Wiesmann UN (1977) Fatal cases of lipid storage myopathy with carnitine deficiency. J Neurol Neurosurg Psychiatry 40:170–178
Cornelio F, Di Donato S, Peluchetti D, Rimoldi M, Daniel S, Testa D, Mora M (1979) Heterogeneity of carnitine deficiency. Clinico-pathological aspects of eight cases. Perspect Inher Metab Dis 3:129–150
Cornelio F, Di Donato S, Testa D, Mora M, Gori G, Peluchetti D, Rimoldy M (1980) “Carnitine deficient” myopathy and cardiomyopathy with fatal outcome. Ital J Neurol Sci 2:95–100
Cornelio F, Bresolin N, Di Mauro S, Mora M, Balestrini MR (1983) Congenital myopathy due to phosphorylase deficiency. Neurology (Cleveland) 33:1383
Cornelio F, Bresolin N, Singer A, Di Mauro S, Rowland LP (1984) Clinical varieties of neuromuscular disease in debrancher deficiency. Arch Neurol 41:1027
Crome L, Cumings JN, Duckett S (1963) Neuropathological and neurochemical aspects of generalized glycogen storage disease. J Neurol Neurosurg Psychiatry 26:422–430
Courtecuisse Y, Royer P, Habbib R, Monnier C, Demos J (1965) Glycogénose musculaire par déficit d'alpha-1,4-glucosidase simulant une dystrophie musculaire progressive. Arch Fr Pediatr 22:1153–1164
Danon MJ, Carpenter S, Manaligold JR, Schliselfeld L (1981) Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase by kinase. Neurology (NY) 31:1303
De Barsy T, Jacquemin P, Van Hoof F, Hers HG (1973) Enzyme replacement in Pompe's disease: an attempt with purified human acid alpha-glucosidase. Birth Defects 9:184–190
Di Donato S, Cornelio F, Balestrini MR, Bertagnolio B, Peluchetti D (1978) Mitochondrial-lipid-glycogen myopathy, hyperlactacidemia and carnitine deficiency. Neurology (Minneap) 28:1110–1116
Di Donato S, Cornelio F, Pacini L, Peluchetti D, Rimoldi M, Spreafico S (1978) Muscle carnitine palmitoyltransferase deficiency. A case with enzyme deficiency in cultured fibroblasts. Ann Neurol 4:465–467
Di Donato S, Castiglione A, Rimoldi M, Cornelio F, Vendemia F, Cardace G, Bertagnolio B (1981) Heterogeneity of carnitine-palmitoyltransferase deficiency. J Neurol Sci 50:207–215
Di Donato S, Rimoldi M, Cornelio F, Bottacchi E, Giunta A (1982) Evidence for autosomal recessive inheritance in systemic carnitine deficiency. Ann Neurol 11:190–192
Di Donato S, Peluchetti D, Rimoldi M, Mora M, Garavaglia B, Finocchiaro G (1983) Systemic carnitine deficiency: clinical, biochemical and morphological cure with L-carnitine. Neurology (Cleveland) 34:157–163
Di Donato S, Rimoldi M, Garavaglia B, Uziel G (1984) Propionylcarnitine excretion in propionic and methylemalonic acidurias: a cause of carnitine deficiency. Clin Chim Acta 139:13–21
Di Mauro S (1978) Metabolic myopathies. In: Vinken PJ, Bruyn GW, Ringel SP (eds) Handbook of clinical neurology, vol 41. North Holland, Amsterdam, pp 175–234
Di Mauro S, Melis Di Mauro PM (1973) Muscle carnitine palmitoyltransferase deficiency and myoglobinuria. Science 182:929–931
Di Mauro S, Hartlage PL (1978) Fatal infantile form of muscle phosphorylase deficiency. Neurology (Minneap) 28:1124
Di Mauro S, Papadimitriou A (1985) Carnitine palmitoyltransferase (CPT) deficiency. In: Engel AG, Bauber BQ (eds) Myology McGraw Hill, New York (in press)
Di Mauro S, Bonilla E, Lee CP, Schotland DL, Scarpa A, Corm H, Chance B (1976) Luft's disease: further biochemical and ultrastructural studies of skeletal muscle in the second case. J Neurol Sci 27:217–232
Di Mauro S, Arnold S, Miranda AF, Rowland LP (1978) McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture: a fetal isoenzyme. Ann Neurol 3:60
Di Mauro S, Stern LZ, Mehler M, Nagle RB, Payne C (1978) Adult-onset acid maltase deficiency: a postmortem study. Muscle Nerve 1:27
Di Mauro S, Hartwig GB, Hays A, Eastwood AB, Franco R, Olarte M, Chang M, Roses AD, Fetell F, Schoenfeldt RS, Stern LZ (1979) Debrancher deficiency: neuromuscular disorder in five adults. Ann Neurol 5:422–436
Di Mauro S, Mendell JR, Sahenk Z, Bachmann D, Scarpa A, Scofield RM, Reiner C (1980) Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-C-oxidase deficiency. Neurology (Minneap) 30:795–804
Di Mauro S, Miranda AF, Khan S, Gitlin K, Friedman R (1981) Human muscle phosphoglycerate mutase deficiency: a newly discovered metabolic myopathy. Science 212:127
Di Mauro S, Delakas M, Miranda AF (1983) Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol 13:11
Di Mauro S, Nicholson JF, Hays AP, Eastwood AB, Papadimistriou A, Koenigsberger R, De Vivo DC (1983) Benign infantile mitochondrial myopathy due to reversible cytochrome-C-oxidase deficiency. Ann Neurol 14:226–234
Di Mauro S, Bresolin N, Hays AP (1984) Disorders of glycogen metabolism of muscle. CRC Crit Rev Clin Neurobiol 1:83–116
Di Mauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo D (1985) Mitochondrial myopathies. Ann Neurol 17:521–538
Dreyfus JC, Alexandre Y (1971) Immunological studies of glycogen storage diseases, type III and V. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency. Biochem Biophys Res Commun 44:1364
Dreyfus JC, Poenaru L (1980) White blood cells and the diagnosis of alpha-glucosidase deficiency. Pediatr Res 14:342
Edwards RHT (1984) New technique for studying human muscle function, metabolism, and fatigue. Muscle Nerve 7:599–609
Edwards RHT, Dawson MJ, Wilkie DR, Gordon RE, Shaw D (1982) Clinical use of nuclear magnetic resonance in the investigation of myopathy. Lancet I:725–731
Edwards RHT, Wiles CM, Gohil K, Drywawych S, Jones DA (1982) Energy metabolism in human myopathy. In: Schotland DL (ed) Disorders of the motor unit. John Wiley & Sons. New York, p 715
Eleff S, Kennaway NG, Buist NRM, Darley-Usmar VM, Capaldi RA, Bank WJ, Chance B (1984) 31P-NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci USA 81:3529–3533
Engel AG (1970) Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 93:599–616
Engel AG, Dale AJD (1968) Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations. Proc Mayo Clin 43:233–279
Engel AG, Gomez MR (1970) Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls. J Neurol Neurosurg Psychiatry 33:801–804
Engel WK, Eyerman EL, Williams HE (1963) Late-onset type of skeletal muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects. N Engl J Med 268:135
Angel AG, Angelini C, Nelson RA (1984) Identification of carnitine deficiency as a cause of human lipid storage myopathy. In: Milhorat AT (ed) Exploratory concepts in muscular dystrophy. II. Excerpta Medica, Amsterdam, pp 601–618
Feit H, Brooke MH (1976) Myophosphorylase deficiency: two different molecular etiologies. Neurology (Minneap) 26:963
Felig P, Wahren J (1975) Fuel homeostasis during exercise. N Engl J Med 293:1078–1084
Fishbein WN, Armbrustmacher VW, Griffin JL (1978) Myoadenylate deaminase deficiency. A new disease of muscle. Science 200:545–54
Gambetti PL, Di Mauro S, Baker L (1971a) Nervous system in Pompe's disease. J Neuropathol Exp Neurol 30:412–430
Gautier M, Habib R, Bargeton E, Nouaille T (1964) Les glycogénoses cardiomusculaires. Etude de deux cas. Sem Hop Paris 40:1025–1029
Gruener R, McArdle B, Ryman B, Weller RO (1968) Contracture in phosphorylase-deficient muscle. J Neurol Neurosurg Psychiatry 31:268
Guibaud P, Carrier H, Mathieu M, Dorche CL, Parchoux B, Bethenod M, Larbre F (1978) Observation familiale de dystrophie musculaire congenitale par deficit en phosphofructokinase. Arch Fr Pediatr 35:1105
Hart ZH, Chang CH, Di Mauro S, Farooki Q, Ayyer R (1978) Muscle carnitine deficiency and fatal cardiomyopathy. Neurology (Minneap) 28:147–151
Hays AP, Hallet M, Delfs J, Morris J, Sotrel A, Shevchuk MM, Di Mauro S (1981) Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology (NY) 31:1077
Hers HG (1963) Alpha-glucosidase deficiency in generalized glycogen storage disease (Pompe's disease). Biochem J 86:11–16
Hers HG, Van Hoof F (1968) Glycogen-storage disease: tye II and type VI glycogenosis. In: Dickens F, Randle PJ, Whelan WJ (eds) Carbohydrate metabolism and its disorders, vol. 2. Academic Press, London New York, pp 151–160
Hewlett RH, Gardner-Thorpe C (1978) McArdle's disease — what limit to the age of onset? A Afr Med J 53:60
Hirschhorn K, Nadler HL, Waithe WI, Brown BI, Hirschhorn R (1969) Pompe's disease: detection of heterozygotes by lymphocyte stimulation. Science 166:1632
Hoppel CL, Tomec RJ (1972) Carnitine palmitoyltransferase: location of two enzymatic activities in rat liver mitochondria. J Biol Chem 247:832–841
Howell RR (1978) The glycogen storage disease. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 137–159
Hug G, Soukup S, Ryan M, Chuck G (1984) Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells. N Engl J Med 310:1018–1022
Illingworth B (1961) Glycogen storage disease. Am J Clin Nutr 9:683–690
Illingworth-Brown B, Brown DH (1966) Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glucosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci USA 56:725–729
Illingworth-Brown B, Brown DH, Jeffrey PL (1970) Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease. Biochemistry 9:1423–1428
Jerusalem F, Angelini C, Engel AG, Groover RV (1973) Mitochondria-lipid-glycogen (MLG) disease of muscle. Arch Neurol 29:162–169
Kanno T, Sudo K, Takeuchi S, Honda N, Nishimura Y, Oyama K (1980) Hereditary deficiency of lactat dehydrogenase M-subunit. Clin Chim Acta 108:267
Karpati G, Carpenter S, Engel AG, Walters G, Allen J, Rothman S, Klassen G, Mamer O (1975) The syndrome of systematic carnitine deficiency. Neurology (Minneap) 25:16–24
Land JM, Hockeday JM, Trevor Hughes J, Ross BD (1981) Childhood mitochondrial myopathy with ophthalmoplegia. J Neurol Sci 51:371–382
Land JM, Morgan-Hughes JA, Clark JB (1981) Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH-cytochrome-b-reductase activity. J Neurol Sci 50:1–13
Loonen MCB, Busch HFM, Koster JF, Martin JJ, Niermeijer MF, Schram AW, Brouwer-Kelder B, Mekes W, Slee RG, Tager JM (1981) A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies. Neurology (NY) 31:1209
Luft R, Ikkos D, Palmieri G (1962) A case of severe hypermetabolism of non-thyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical and morphological study. J Clin Invest 41:1776–1804
Martin JJ, deBarsy Th, Van Hoof F, Palladini G (1973) Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle. Acta Neuropathol 23:229
Martin JJ, deBarsy Th, De Schrijver R, Leroy JG, Palladini G (1976) Acid maltase deficiency (type II glycogenosis); morphological and biochemical study of a childhood phenotype. J Neurol Sci 30:155
Matsuishi T, Terasawa K, Yoshida I et al. (1982) Vacuolar myopathy with type 2A fiber atrophy and type 2B fiber deficiency: a case of childhood form acid alpha-1,4-glucosidase deficiency. Neuropediatrics 13:173–176
McArdle B (1951) Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 10:13–36
Mehler M, Di Mauro S (1977) Residual acid maltase activity in late-onset acid maltase deficiency. Neurology (Minneap) 27:178
Michelson AM, Bruns GAP, Morton CC, Orkin SH (1983) Characterization of the human phosphoglycerate kinase multigene family. Presented at the American Society of Human Genetics, 34th Annual Meeting, Norfolk, Va
Minchom PE, Dormer RL, Hughes IA, Stansbie D, Cross AR, Hendry GAF, Jones OTG, Johnson MA, Sherrat HSA, Turnbull DM (1983) Fatal infantile mitochondrial myopathy due to cytochrome-C-oxidase deficiency. J Neurol Sci 60:453–463
Miranda AF, Nette EG, Hartlage PL, Di Mauro S (1979) Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. Neurology (Minneap) 29:1538
Miranda AF, Di Mauro S, Antler A, Stern LZ, Rowland LP (1981) Glycogen debrancher deficiency is reproduced in muscle culture. Ann Neurol 9:283–288
Miranda AF, Shanske S, Di Mauro S (1982) Developmentally regulated isozyme transitions in normal and diseased human muscle. In: Pearson ML, Epstein HF (eds) Muscle development: molecular and cellular control. Cold Spring Harbor Laboratory, New York, p 515
Mommaerts WFHM, Illingworth B, Pearson CM, Guillory RJ, Seraydarian K (1959) A functional disorder of muscle associated with the absence of phosphorylase. Proc Natl Acad Sci USA 45:791–797
Morgan-Hughes JA, Darveniza P, Kahn SN, Landon DN, Sherrat RM, Land JM, Clark JB (1977) A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. Brain 100:617–640
Morgan-Hughes JA, Darveniza P, Landon DN, Land JM, Clark JB (1979) A mitochondrial myopathy with a deficiency of respiratory chain NADH-Co Q reductase activity. J Neurol Sci 43:27–46
Morgan-Hughes JA, Hayes DJ, Clark JB, Landon DN, Swash M, Rudge P (1982) Mitochondrial encephalomyopathies. Biochemical studies in two cases revealing defects in the respiratory chain. Brain 105:553–582
Morgan-Hughes JA, Hayes DJ, Clark JB (1984) Mitochondrial myopathies. In: Serratrice G (ed) Neuromuscular diseases. Raven Press, New York, pp 79–85
Pellissier JF, deBarsy Th, Faugere MC, Rebuffel P (1979) Type III glycogenosis with multicore structures. Muscle Nerve 2:124
Pompe JC (1932) Idiopathic hypertrophy of the heart (in Dutch). Ned Tijdschr Geneeskd 76:304–311
Pourmand R, Sanders DB, Corwin HM (1983) Late-onset McArdle's disease with unusual electromyographic findings. Arch Neurol 40:374
Protti A, Blasevich F, Daniel S, Marchi M, Rimoldi M, Cornelio F (1984) Debrancher enzyme deficiency myopathy, morphological study of a possible neurogenic inducement. Acta Neurol 6:366–367
Rebouche CJ, Engel AG (1983) Carnitine metabolism and deficiency syndromes. Mayo Clin Proc 58:533–540
Reuser AJJ, Koster JF, Hoogeveen A, Galjaard H (1978) Biochemical, immunological and cell genetic studies in glycogenosis type II. Am J Hum Genet 30:132
Riggs JE, Shochet SS, Fakaday AV, Papadimitriou A, Di Mauro S, Crosby TW, Gutman L, Moxley RT (1984) Mitochondrial encephalomyopathy with decreased succinate-cytochrome-C-reductase activity. Neurology (Cleveland) 34:48–53
Rimoldi M, Di Donato S (1982) Measurement of long-chain acylcarnitines. Neurology (NY) 32:916–917
Rimoldi M, Bottacchi E, Rossi L, Cornelio F, Uziel G, Di Donato S (1982) Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy. J Neurol 27:201–207
Rosenow EC, Engel AG (1978) Acid maltase deficiency in adults presenting as respiratory failure. Am J Med 64:485
Ross BD, Radda GK, Gadian DG, Rocker G, Esiri M, Falconer-Smith J (1981) Examination of a case of suspected McArdle's syndrome by 31P nuclear magnetic resonance. N Engl J Med 304:1338
Rudolph SN, Van der Berg JL (1982) Phosphoglycerate kinase isozyme profile in reproductive cells and tissues of cattle: sperm specificity of PGK-B. Biochem Genet 20:105–109
Sato K, Imai F, Hatayama I, Roelofs RI (1977) Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease. Biochem Biophys Res Commun 78:663–668
Schmid R, Mahler R (1959) Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest 38:2044–2058
Schmid R, Robbins PW, Traut RR (1959) Glycogen synthesis in muscle lacking phosphorylase. Proc Natl Acad Sci USA 45:1236–1240
Scholte HR, Jennekens FGI, Bouvry JJBJ (1979) Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leukocytes. J Neurol Sci 40:39–51
Schotland DL, Di Mauro S, Bonilla E, Scarpa A, Lee CP (1976) Neuromuscular disorder associated with a defect in mitochondrial energy supply. Arch Neurol 33:475–479
Sengers RCA, Tryfels JMF, Bakkeren JAJM, Ruitenbeck W, Fisher JC, Janssen AJM, Stadhouders AM, ter Laake HJ (1984) Deficiency of cytochrome b and aa3 in muscle from a floppy infant with cytochrome C oxidase deficiency. Am J Pediatr 141:178–180
Serratrice G, Monges A, Roux H, Aquaron R, Gambarelli D (1969) Forme myopatique du deficit en phosphofructokinase. Rev Neurol (Paris) 120:271
Shapira Y, Harel S, Russel A (1977) Mitochondrial encephalopathy: a group of neuromuscular disorders with defects in oxidative metabolism. J Med Sci 13:161–164
Shumate JB, Katnik R, Ruiz M, Kaiser K, Frieden C, Brooke MH, Caroll J (1979) Myoadenilate deaminase deficiency. Muscle Nerve 2:213
Slonim AE, Goans PJ (1985) Myopathy in McArdle's syndrome. Improvement with a high-protein diet. N Engl J Med 312:355–359
Slonim A, Weisberg E, Benke P, Evans OB, Burr IM (1982) Reversal of debrancher deficiency myopathy by use of high-protein nutrition. Ann Neurol 11:420
Slonim AE, Coleman RA, McElligot MA, Najjar J, Hirschhorn K, La Badie GU, Mrak R, Evans OB, Shipp E, Presson R (1983) Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology (Cleveland) 33:34
Smith H, Amick LD, Sidbury JB (1966) Type II glycogenosis: report of a case with four-year survival and absence of acid maltase associated with an abnormal glycogen. Am J Dis Child 111:475
Solomon E, Swallow D, Burgess S, Evans L (1979) Assignment of the human acid alpha-glucosidase gene (alpha-GLU) to chromosome 17 using somatic cell hybrids. Ann Hum Genet 42:273
Spiro AG, Moore CL, Prineas JW, Strasberg PM, Rapin I (1970) A cytochrome-related inherited disorder of the nervous system and muscle. Arch Neurol 23:103–112
Tarui S, Okuno G, Ikua Y, Tanaka T, Suda M, Nishikawa M (1965) Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem. Biophys Res Commun 19: 517–523
Tarui S, Mineo I, Shimizu T, Sumi S, Kono N (1984) Muscle phosphofructokinase deficiency and related disorders. In: Serratrice G, Cros D, Desnuelle C, Gastaut JL, Pellissier JF, Pouget J, Schiano A (eds) Neuromuscular disease. Raven Press, New York, pp 71–77
Trevisan CP, Angelini A, Freddo L, Isaya G, Martinuzzi A (1984) Myoglobinuria and carnitine-palmitoyltransferase deficiency. Studies with malonyl-CoA suggest absence of only CPT II. Neurology (Cleveland) 34:353–356
Tripp ME, Katcher ML, Gilbert EF, Arya S, Hodach RJ, Shug AL (1981) Systemic carnitine deficiency presenting as familial endocardial fibroblastosis. A treatable cardiomyopathy. N Engl J Med 305:385–390
Turnbull DM, Bartlett K, Stevens DL, Albert KGMM, Gibson GJ, Johnson MA, McCullloch AJ, Sherrat ASA (1984) Short-chain acylCoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. N Engl J Med 311:1232–1236
Tzagoloff A (1982) Mitochondria. Plenum Press, New York
Valentine WN, Hsieh HS, Anderson HM, Baughan MA, Jaffe ER, Garson OM (1969) Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in eryhtrocytes and leukocytes. N Engl J Med 280:528
Van Bliervliet JPGM, Bruinvis L, Ketting D, De Bree PK, Van der Heyden C, Wadman SK (1977) Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome and a defective respiratory chain in voluntary striated muscles. Pediatr Res 11:1088–1093
Vora S (1982) Isozymes of phosphofructokinase. Curr Top Biol Med Res 6:119
Vora S, Corash L, Engel WK, Durham S, Seaman C, Piomelli S (1980) The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and miopathy. Blood 55:629
Weil D, Cong NV, Gross MS, Frezal J (1979) Localisation du gene de l'alpha-glucosidase acide (alpha-GLUa) sur le segment q21-qter du chromosome 17 par l'hybridation cellulaire internspecifique. Hum Genet 52:249
Willems JL, Moennens LAM, Trijbels JMF, Veerkamp JH, Meyer AEFH, Van Dam K, Van Haelst U (1977) Leigh's encephalomyelopathy in a patient with cytochrome-C-oxidase deficiency in muscle tissue. Pediatrics 60:850–857
Williams HE, Kendig EM, Field JB (1963) Leukocyte debranching enzyme in glycogen storage disease. J Clin Invest 42:656–660
Zellweger H, Illingworth-Brown B, McCormic WF, Tu JB (1965) A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency. Ann Paediatr 205:413–437
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This review has been supported by a research grant from the Muscular Dystrophy Association (MDA), USA, 1984–1985, grant no. 83.02412.04 of the Consiglio Nazionale delle Ricerche (CNR), Rome, Italy and the “Legato Dino Ferrari” Foundation
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Cornelio, F., DiDonato, S. Myopathies due to enzyme deficiencies. J Neurol 232, 329–340 (1985). https://doi.org/10.1007/BF00313831
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DOI: https://doi.org/10.1007/BF00313831