Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

Muscle and Nerve

Volumn 19, Issue 6, 1996, Pages 751-757

  Melberg, Atle ^a   Lundberg, Per Olov ^a   Henriksson, Karl G ^b   Olsson, Yngve ^a   Stålberg, Erik ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

Author keywords

electrophysiology; familial; mitochondrial myopathy; neuropathy; progressive external ophthalmoplegia

Indexed keywords

ACID PHOSPHATASE; ADENOSINE MONOPHOSPHATE DEAMINASE; ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CARNITINE; CREATINE KINASE; CREATININE; CYTOCHROME C OXIDASE; GAMMA GLUTAMYLTRANSFERASE; GLYCOGEN; LACTATE DEHYDROGENASE; LIPID; MYOGLOBIN; PHOSPHORYLASE PHOSPHATASE; SUCCINATE DEHYDROGENASE; TETRAZOLIUM REDUCTASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENZYME DEFICIENCY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; HUMAN; HUMAN TISSUE; HYPOGONADISM; MALE; MOTOR UNIT POTENTIAL; MUSCLE BIOPSY; MUSCLE STRENGTH; MYOPATHY; NERVE CONDUCTION; NEUROGRAPHY; PEDIGREE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BIOPSY; FEMALE; GENES, DOMINANT; HUMANS; HYPOGONADISM; MALE; MEDIAN NERVE; MICROSCOPY, ELECTRON; MIDDLE AGED; MOTOR NEURONS; MUSCLE, SKELETAL; NEURAL CONDUCTION; NEURONS, AFFERENT; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE; PERONEAL NERVE; RADIAL NERVE; SURAL NERVE; TIBIAL NERVE; ULNAR NERVE;

EID: 0029978895     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199606)19:6<751::AID-MUS10>3.0.CO;2-O     Document Type: Article

References (24)

1. Bastiaensen LAK, Joosten EMG, de Rooij JAM, Hommes OR, Stadhouders AM, Jaspar HHJ, Veerkamp JH, Bookelman H, van Hinsbergh VWM: Ophthalmoplegia-plus, a real nosological entity. Acta Neurol Scand 1978;58:9-34.
2. DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC: Mitochondrial myopathies. Ann Neurol 1985:17:521-538.
3. DiMauro S, Tonin P, Servidei S: Metabolic myopathies, in Rowland LP, DiMauro S (eds): Handbook of Clinical Neurology. Amsterdam, Elsevier, 1992, vol 62, pp 479-526.
4. Gemignani F, Juvarra G, Marbini A Calzetti S, Bragaglia MM, Govoni E: Polyneuropathy in progressive external ophthalmoplegia. Eur Neurol 1982:21:181-188.
5. Holt IJ, Harding AE, Morgan-HughesJA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
6. Jankowicz E, Berger H, Kurasz S, Winogrodzka W, Eljasz L: Familial progressive external opthalmoplegia with abnormal muscle mitochondria. Eur Neurol 1977;15:318-324.
7. Lindberg C, Oldfors A, Hedström A: Inclusion body myositis: peripheral nerve involvement. Combined morphological and electrophysiological studies on peripheral nerves. J Neurol Sci 1990;99:327-338.
8. Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B: A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776-1804.
9. Lundberg PO: Ocular myopathy with hypogonadism. Acta Neurol Scand 1962,38:142-155.
10. Lundberg PO: Observations on endocrine function in ocular myopathy. Acta Neurol Scand 1966;42:39-61.
11. Lundberg PO: Ophthalmoplegia with hypogonadism, in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology. Amsterdam, Elsevier/North-Holland Biomedical Press, 1982, vol 43, pp 138-140.
12. Oldfors A, Larsson NG, Lindberg C, Holme E: Mitochondrial DNA deletions in inclusion body myositis. Brain 1993; 116:325-336.
13. Petty RKH, Harding AE, Morgan-Hughes JA: The clinical features of mitochondrial myopathy. Brain 1986:109:915-938.
14. Peyronnard JM, Charron L, Bellavance A, Marchand L: Neuropathy and mitochondrial myopathy. Ann Neurol 1980; 7:262-268.
15. Pezeshkpour G, Krarup C, Buchthal F, DiMauro S, Bresolin N, McBurney J: Peripheral neuropathy in mitochondrial disease. J Neurol Sci 1987:77:285-304.
16. Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, DiMauro S, DiDonato S, Tonali P: Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA. Neurology 1991:41:1053-1059.
17. Stålberg E, Falck B, Sonoo M, Stålberg S, Åström M: Multi-MUP EMG analysis - a two year experience in daily clinical work, Electroencephalogr Clin Neurophysiol 1995;97:145-154.
18. Torbergsen T, Stålberg E, Bless JK; Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies. Muscle Nerve 1991;14:35-41.
19. Uncini A, Servidei S, Silvestri G, Manfredi G, Sabatelli M, DiMuzio A, Ricci E, Mirabella M, DiMauro S, Tonali P: Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathv, and gastrointestinal dysfunction with multiple deletions of mitochondrial DXA: a mitochondrial multisystem disorder in search of a name. Muscle Nerve 1994;17: 667-674.
20. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS. Elsas LJ, Nikoskelainen EK: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430.
21. Yiannikas C, McLeod JG, Pollard JD, Baverstock J: Peripheral neuropathy associated with mitochondrial myopathy. Ann Neurol 1986;20:249-257.
22. Zeviani M, Bonilla E, DeVivo DC, DiMauro S: Mitochondrial diseases. Neurol Clin 1989;7:123-156.
23. Zeviani M, Bresolin X, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G, DiDonato S: Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. AmJ Hum Genet 1990;47:904-914.
24. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S: An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.