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Volumn 19, Issue 12, 1996, Pages 1561-1569

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism

Author keywords

anticipation; familial; hypogonadism; mitochondrial DNA deletions; progressive external ophthalmoplegia

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

EID: 0029821848     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUS5>3.0.CO;2-8     Document Type: Article
Times cited : (29)

References (38)
  • 1
    • 0027257735 scopus 로고
    • Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
    • Anvret M, Åhlberg G, Grandell U, Hedberg B, Johnson K, Edström L: Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 1993;2:1397-1400.
    • (1993) Hum Mol Genet , vol.2 , pp. 1397-1400
    • Anvret, M.1    Åhlberg, G.2    Grandell, U.3    Hedberg, B.4    Johnson, K.5    Edström, L.6
  • 3
    • 0023743293 scopus 로고
    • A dominantly inherited progressive disease in a black family characterised by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria
    • Cooles P, Michaud R, Best PV: A dominantly inherited progressive disease in a black family characterised by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria. J Neurol Sci 1988;87:275-288.
    • (1988) J Neurol Sci , vol.87 , pp. 275-288
    • Cooles, P.1    Michaud, R.2    Best, P.V.3
  • 7
    • 0026840482 scopus 로고
    • Disorders associated with multiple deletions of mitochondrial DNA
    • Haltia M, Suomalainen A, Majander A, Somer H: Disorders associated with multiple deletions of mitochondrial DNA. Brain Pathol 1992;2:133-139.
    • (1992) Brain Pathol , vol.2 , pp. 133-139
    • Haltia, M.1    Suomalainen, A.2    Majander, A.3    Somer, H.4
  • 10
    • 0026773036 scopus 로고
    • Endocrine dysfunction in Kearns-Sayre syndrome
    • Harvey JN, Barnett D: Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol 1992;37:97-104.
    • (1992) Clin Endocrinol , vol.37 , pp. 97-104
    • Harvey, J.N.1    Barnett, D.2
  • 11
    • 0017651721 scopus 로고
    • Familial progressive external ophthalmoplegia with abnormal muscle mitochondria
    • Jankowicz E, Berger H, Kurasz S, Winogrodzka W, Eljasz L: Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. Eur Neurol 1977;15:318-324.
    • (1977) Eur Neurol , vol.15 , pp. 318-324
    • Jankowicz, E.1    Berger, H.2    Kurasz, S.3    Winogrodzka, W.4    Eljasz, L.5
  • 12
    • 0028352198 scopus 로고
    • Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy
    • Kawashima S, Ohta S, Kagawa Y, Yoshida M, Nishizawa M: Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. Muscle Nerve 1994;17:741-746.
    • (1994) Muscle Nerve , vol.17 , pp. 741-746
    • Kawashima, S.1    Ohta, S.2    Kagawa, Y.3    Yoshida, M.4    Nishizawa, M.5
  • 13
    • 0025345775 scopus 로고
    • Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome
    • Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M: Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 1990;28:131-136.
    • (1990) Pediatr Res , vol.28 , pp. 131-136
    • Larsson, N.G.1    Holme, E.2    Kristiansson, B.3    Oldfors, A.4    Tulinius, M.5
  • 14
  • 16
    • 0018837786 scopus 로고
    • Autosomal dominant Kearns-Sayre syndrome
    • Leveille AS, Newell FW: Autosomal dominant Kearns-Sayre syndrome. Ophthalmology 1980;87:99-108.
    • (1980) Ophthalmology , vol.87 , pp. 99-108
    • Leveille, A.S.1    Newell, F.W.2
  • 17
    • 0344920011 scopus 로고
    • Ocular myopathy with hypogonadism
    • Lundberg PO: Ocular myopathy with hypogonadism. Acta Neurol Scand 1962;38:142-155.
    • (1962) Acta Neurol Scand , vol.38 , pp. 142-155
    • Lundberg, P.O.1
  • 18
    • 84981778303 scopus 로고
    • Observations on endocrine function in ocular myopathy
    • Lundberg PO: Observations on endocrine function in ocular myopathy. Acta Neurol Scand 1966;42:39-61.
    • (1966) Acta Neurol Scand , vol.42 , pp. 39-61
    • Lundberg, P.O.1
  • 19
    • 9244261452 scopus 로고
    • Ophthalmoplegia with hypogonadism
    • Vinken PJ, Bruyn GW (eds): Amsterdam, Elsevier/North-Holland Biomedical Press
    • 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.
    • (1982) Handbook of Clinical Neurology , vol.43 , pp. 138-140
    • Lundberg, P.O.1
  • 20
    • 0029978895 scopus 로고    scopus 로고
    • Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
    • Melberg A, Lundberg PO, Henriksson KG, Olsson Y, Stålberg E: Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 1996;19:751-757.
    • (1996) Muscle Nerve , vol.19 , pp. 751-757
    • Melberg, A.1    Lundberg, P.O.2    Henriksson, K.G.3    Olsson, Y.4    Stålberg, E.5
  • 23
    • 84977699878 scopus 로고
    • Ocular myopathy and organic dementia. A hereditary neuropsychiatric disease
    • Nyman GE: Ocular myopathy and organic dementia. A hereditary neuropsychiatric disease. Acta Psychiat Scand 1970;46(suppl 219):145-153.
    • (1970) Acta Psychiat Scand , vol.46 , Issue.219 SUPPL. , pp. 145-153
    • Nyman, G.E.1
  • 25
    • 0027478804 scopus 로고
    • Mitochondrial DNA deletions in inclusion body myositis
    • Oldfors A, Larsson NG, Lindberg C, Holme E: Mitochondrial DNA deletions in inclusion body myositis. Brain 1993;116: 325-336.
    • (1993) Brain , vol.116 , pp. 325-336
    • Oldfors, A.1    Larsson, N.G.2    Lindberg, C.3    Holme, E.4
  • 26
    • 0015309883 scopus 로고
    • Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. Histochemical and ultrastructural changes in limb muscles of a group of patients with idiopathic progressive external ophthalmoplegia
    • Olson W, Tenn N, Engel WK, Walsh GO, Einaugler R: Oculocraniosomatic neuromuscular disease with "ragged-red" fibers. Histochemical and ultrastructural changes in limb muscles of a group of patients with idiopathic progressive external ophthalmoplegia. Arch Neurol 1972;26:193-211.
    • (1972) Arch Neurol , vol.26 , pp. 193-211
    • Olson, W.1    Tenn, N.2    Engel, W.K.3    Walsh, G.O.4    Einaugler, R.5
  • 27
    • 0025322251 scopus 로고
    • Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy
    • Otsuka M, Niijima K, Mizuno Y, Yoshida M, Kagawa Y, Ohta S: Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy. Biochem Biophys Res Commun 1990;167:680-685.
    • (1990) Biochem Biophys Res Commun , vol.167 , pp. 680-685
    • Otsuka, M.1    Niijima, K.2    Mizuno, Y.3    Yoshida, M.4    Kagawa, Y.5    Ohta, S.6
  • 29
    • 0000511618 scopus 로고
    • Progressive external ophthalmoplegia and ocular myopathies
    • Rowland LP, DiMauro S (eds): Amsterdam, Elsevier Science Publishers BV
    • Rowland LP: Progressive external ophthalmoplegia and ocular myopathies, in Rowland LP, DiMauro S (eds): Handbook of Clinical Neurology. Amsterdam, Elsevier Science Publishers BV, 1992, vol 62, pp 287-329.
    • (1992) Handbook of Clinical Neurology , vol.62 , pp. 287-329
    • Rowland, L.P.1
  • 34
    • 0026637067 scopus 로고
    • Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
    • Suomalainen A, Majander A, Haltia M, Somer H, Lönnqvist J, Savontaus ML, Peltonen L: Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992;90:61-66.
    • (1992) J Clin Invest , vol.90 , pp. 61-66
    • Suomalainen, A.1    Majander, A.2    Haltia, M.3    Somer, H.4    Lönnqvist, J.5    Savontaus, M.L.6    Peltonen, L.7
  • 38
    • 0024601360 scopus 로고
    • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
    • 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.
    • (1989) Nature , vol.339 , pp. 309-311
    • Zeviani, M.1    Servidei, S.2    Gellera, C.3    Bertini, E.4    DiMauro, S.5    Didonato, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.