Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy a pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect

Journal of the Neurological Sciences

Volumn 137, Issue 1, 1996, Pages 20-27

  Fabrizi, Gian Maria ^a   Lodi, Raffaele ^b   D'Ettorre, Michele ^a   Malandrini, Alessandro ^a   Cavallaro, Tiziana ^a   Rimoldi, Marco ^c   Zaniol, Paolo ^d   Barbiroli, Bruno ^b   Guazzi, Giancarlo ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

31P MR spectroscopy; Cardiomyopathy; Limb girdle myopathy; Mitochondrial encephalo myopathy

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CARDIOMYOPATHY; CELL STRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; HISTOLOGY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; ULTRASTRUCTURE;

ADULT; BIOPSY; CARDIOMYOPATHY, DILATED; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MYOCARDIUM; PEDIGREE; PHOSPHOCREATINE; PHOSPHORUS ISOTOPES;

EID: 0029937838     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00321-R     Document Type: Article

References (36)

1. Arikawa, E., E.P. Hoffman, M, Kaido, I, Nonaka, H. Sugita, K. Arahata. (1991) The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology, 41: 1491-1496.
2. Arnold, D.L., D.J. Taylor, G.K. Radda. (1985) Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy. Ann. Neurol., 18: 189-196.
3. 31P MR spectroscopy in 28 patients with mitochondrial cytopathies. J. Cereb. Blood Flow. Metab., 13: 469-474.
4. 31P, and 13 C NMR. J. Magn. Reson., 59: 338-342.
5. Bottomly, P.A., C.J. Hardy C.J. (1989) Rapid, reliable in vivo assay of human phosphate metabolites by nuclear magnetic resonance. Clin Chem, 59: 392-395.
6. Brownell, A.K.W., J.J. Gilbert, D.T. Shaw, B. Garcia, G.F. Wenkebach, A.K.S. Lam (1978) Adult onset nemaline myopathy. Neurology, 28: 1306-1309.
7. Chance, B. and Williams, G. (1955) Respiratory enzymes in oxidative phosphorylation.I. Kinetics of oxygen utilization. J. Biol. Chem., 217: 383-393.
8. Chance, B., J.S. Leigh, J. Kent, K.K. McCully, S. Nioka, B.J. Clark, J.M. Maris, T. Graham (1986) Multiple controls of oxidative metabolism in living tissues as studied by phosphorus magnetic resonance. Proc. Natl, Acad. Sci. USA, 83: 9458-9462.
9. Cortelli, P., P. Montagna, P. Avoni, S. Sangiorgi, N. Bresolin, M. Moggio, P. Zaniol, V. Mantovani, P. Barboni, B. Barbiroli, E. Lugaresi. (1991) Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family. Neurology, 41: 1211-1215.
10. DiMauro, S., P. Tonin, S. Servidei (1992) Metabolic myopathies. In: Vinken, P.J., G.W. Bruyn, H.L. Klawans (Eds.), Handbook of Clinical Neurology: Myopathies (Vol.62), Elsevier, Amsterdam, pp. 479-526.
11. Dubowitz, V. (1985) Muscle Biopsy. A practical approach. Eastbourne-Baillière Tindall, London .
12. EEC Concerted Research Project (1995) Quality Assesment in vivo NMR spectroscopy. II A protocol for quality assessment. Magnetic Reson. Imaging, 13: in press.
13. Eleff S.M., P.B. Barker, S.J. Blackband, J.C. Chatam, N.W. Lutz, R.D. Johns, N.R. Bryan, O. Hurko (1990) Phosphorus magnetic resonance spectroscopy of patients with mitochondrial cytopathies demonstrates decreased levels of brain phosphocreatine. Ann. Neurol., 27: 626-630.
14. Engel, A.G. (1970) Acid maltase deficiency in adults: studies in four cases of syndrome which may mimic muscular dystrophy or other myopathies. Brain, 93: 599-616.
15. Ferguson, I.T., M. Mahon, W.J.K. Cumming. (1983) An adult case of Anderson's disease: type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study. J. Neurol. Sci., 60: 337-353.
16. Gilchrist, J.M., M. Pericak-Vance, L. Silverman, A.D. Roses (1988) Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology, 38: 5-9.
17. Heiman-Patterson, T.D., A.J. Tahmoush, E.B. Bonilla, S. DiMauro. (1985) Familial prednisone-responsive mitochondrial myopathy presenting as a limb-girdle dystrophy syndrome. Neurology,35: 302 (abstract).
18. 31P-MRS. The role of pH in the evaluation of phosphocreatine and inorganic phosphate recoveries from exercise. NMR Biomed., 6: 248-253.
19. Jerusalem, F. and J.P. Sieb (1992) The limb girdle syndromes. In: Vinken, P.J., G.W. Bruyn, H.L. Klawans (Eds), Handbook of Clinical Neurology: Myopathies (Vol.62), Elsevier, Amsterdam, pp.445-464.
20. Johnston, W., G. Karpati, S. Carpenter, D. Arnold, E.A. Shoubridge (1995) Late-onset mitochondrial myopathy. Ann. Neurol., 37: 16-23.
21. 31P-magnetic resonance spectroscopy in NARP syndrome. J. Neurol. Neurosurg. Psychiatry, 57: 1492-1496.
22. Massa, R., B. Weller, G. Karpati, E. Shoubridge, S. Carpenter (1991) Familial inclusion body miositis among Kurdish-Iranian Jews. Arch. Neurol., 48: 519-522.
23. Matthews, P.M., C. Allaire, E.A. Shoubridge, G. Karpati, S. Carpenter, D.L. Arnold (1991) In vivo muscle magnetic resonance spectroscopy in the clinical investigation of mitochondrial disease. Neurology, 41: 114-120.
24. McLeod, J.G., W.D.C. Baker, A.K. Lethlean, Shorey, C.D. (1972) Centronuclear myopathy with autosomal dominant inheritance.J. Neurol. Sci.,15: 375-387.
25. Mercetis R., J.J. Martin, I. Dehaene, T. DeBarsy, G. Van den Berghe (1981) Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy. J. Neurol., 225: 157-166.
26. Neville, H.E., L.L. Baumbach, S.P. Ringel, L.S. Russo, E. Sujansky, C.A. Garcia (1992) Familial inclusion body myositis: evidence for autosomal dominant inheritance. Neurology, 42: 897-902.
27. 31P and 1H nuclear magnetic resonance studies. Magn. Reson. Med. 1: 589-593.
28. Rowland, L.P., D.M. Blake, M. Hirano, S. DiMauro, E.A. Schon, A.P. Hays, D.C. DeVivo (1991) Clinical syndromes associated with ragged-red fibers. Rev. Neurol., 147: 6-7,467-473.
29. Schields, R.W. Jr. (1994) Limb Girdle Syndromes. In: Engel, A.W., C. Franzini-Armstrong (Eds.), Myology, McGraw Hill, Englewood Cliffs, NJ.
30. Speer, M.C., L.H. Yamaoka, J.H. Gilchrist, C.P. Gaskell, J.M. Stajich, J.M. Vance, A. Kazantsev, A.A. Lastra, C.S. Haynes, J.S. Beckmann, D. Cohen, J.L. Weber, A.D. Roses, M.A. Pericak-Vance (1992) Confirmation of genetic heterogeneity in Limb-Girdle Muscular Dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am. J. Hum. Genet, 50: 1211-1217.
31. Stubgen, J.P. (1993) Limb girdle muscular dystrophy: a non-invasive cardiac evaluation. Cardiology, 83: 324-330.
32. 31P-NMR study. Mol. Biol. Med., 1: 77-94.
33. Veech, R.L., J.W.R. Lawson, N.W. Cornell, H.A. Krebs (1979) Cytosolic phosphorylation potential. J. Biol. Chem., 254: 6538-6547.
34. 31P-MR spectroscopy performed routinely in a clinical environment by a whole-body imager/spectrometer. Physica Medica, 8: 87-91.
35. Leu(uuR) Lancet, 338: 143-147.
36. Zeviani, M., S. Servidei, C. Gellera, E. Bertini, DiMauro S., DiDonato S. (1989) An autosomal dominant disorder with multiple deletions of mitochondria! DNA starting at the D-loop. Nature, 339: 339-311.