메뉴 건너뛰기




Volumn 53, Issue 4, 1999, Pages 830-837

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

Author keywords

Autosomal dominant vacuolar neuromyopathy; Linkage; Rimmed vacuoles

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOMAL LOCALIZATION; CHROMOSOME 19; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FAMILIAL INCIDENCE; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; MUSCLE BIOPSY; NEUROMUSCULAR DISEASE; PEDIGREE; PRIORITY JOURNAL;

EID: 0033546999     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.4.830     Document Type: Article
Times cited : (31)

References (38)
  • 1
    • 0002827582 scopus 로고
    • Oculopharyngeal muscular dystrophy
    • Engel AG, Franzini-Armstrong C, ed. New York: McGraw-Hill
    • Tomé FMS, Fardeau M. Oculopharyngeal muscular dystrophy. In: Engel AG, Franzini-Armstrong C, ed. Myology. Vol. 2. New York: McGraw-Hill, 1994:1233-1245.
    • (1994) Myology , vol.2 , pp. 1233-1245
    • Tomé, F.M.S.1    Fardeau, M.2
  • 2
    • 0028832396 scopus 로고
    • New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies
    • Askanas V, Engel WK. New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Curr Opin Rheumatol 1995;7:486-496.
    • (1995) Curr Opin Rheumatol , vol.7 , pp. 486-496
    • Askanas, V.1    Engel, W.K.2
  • 3
    • 0019481203 scopus 로고
    • Familial distal myopathy with rimmed vacuoles and lamellar (myeloid) body formation
    • Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuoles and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155.
    • (1981) J Neurol Sci , vol.51 , pp. 141-155
    • Nonaka, I.1    Sunohara, N.2    Ishiura, S.3    Satoyoshi, E.4
  • 4
    • 0030933296 scopus 로고    scopus 로고
    • Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9
    • Ikeuchi T, Asaka T, Saito M, et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997;41:432-437.
    • (1997) Ann Neurol , vol.41 , pp. 432-437
    • Ikeuchi, T.1    Asaka, T.2    Saito, M.3
  • 5
    • 0028915818 scopus 로고
    • The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13
    • Brais B, Xie YG, Sanson M, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet 1995;4:429-434.
    • (1995) Hum Mol Genet , vol.4 , pp. 429-434
    • Brais, B.1    Xie, Y.G.2    Sanson, M.3
  • 7
    • 0014478756 scopus 로고
    • Genetic studies of a family with two unusual autosomal dominant conditions: Muscular dystrophy and Pelger-Huet anomaly
    • Schneiderman LJ, Sampson WI, Schone WC, Haydon GB. Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly. Am J Med 1969;46:380-393.
    • (1969) Am J Med , vol.46 , pp. 380-393
    • Schneiderman, L.J.1    Sampson, W.I.2    Schone, W.C.3    Haydon, G.B.4
  • 9
    • 0023856168 scopus 로고
    • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
    • Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988;38:5-9.
    • (1988) Neurology , vol.38 , pp. 5-9
    • Gilchrist, J.M.1    Pericak-Vance, M.2    Silverman, L.3    Roses, A.D.4
  • 10
    • 0025162220 scopus 로고
    • Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy
    • Fitzpatrick AP, Shapiro LM, Rickards A, Poole-Wilson PA. Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. Br Heart J 1990;63:114-118.
    • (1990) Br Heart J , vol.63 , pp. 114-118
    • Fitzpatrick, A.P.1    Shapiro, L.M.2    Rickards, A.3    Poole-Wilson, P.A.4
  • 11
    • 0025876630 scopus 로고
    • Limb girdle muscular dystrophy with autosomal dominant inheritance
    • Marconi G, Pizzi A, Arimondi CG, Vannelli B. Limb girdle muscular dystrophy with autosomal dominant inheritance. Acta Neurol Scand 1991;83:234-238.
    • (1991) Acta Neurol Scand , vol.83 , pp. 234-238
    • Marconi, G.1    Pizzi, A.2    Arimondi, C.G.3    Vannelli, B.4
  • 12
    • 0026809979 scopus 로고
    • Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution. A preliminary report
    • Chang W-N, Lee C-C, Chen S-S. Adult-onset, autosomal dominant, rimmed vacuolar myopathy with limb-girdle distribution. A preliminary report. J Formos Med Assoc 1992;91:223-227.
    • (1992) J Formos Med Assoc , vol.91 , pp. 223-227
    • Chang, W.-N.1    Lee, C.-C.2    Chen, S.-S.3
  • 13
    • 0031035819 scopus 로고    scopus 로고
    • Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block
    • Fang W, Huang C-C, Chu N-S, Chen C-J, Lu C-S, Wang C-C. Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block. Muscle Nerve 1997; 20:286-292.
    • (1997) Muscle Nerve , vol.20 , pp. 286-292
    • Fang, W.1    Huang, C.-C.2    Chu, N.-S.3    Chen, C.-J.4    Lu, C.-S.5    Wang, C.-C.6
  • 14
    • 0026690760 scopus 로고
    • Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
    • Speer MC, Yamaoka LH, Gilchrist JM, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992;50:1211-1217.
    • (1992) Am J Hum Genet , vol.50 , pp. 1211-1217
    • Speer, M.C.1    Yamaoka, L.H.2    Gilchrist, J.M.3
  • 15
    • 0028788563 scopus 로고
    • Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy
    • Speer MC, Gilchrist JM, Chutkow JG, et al. Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Am J Hum Genet 1995;57:1371-1376.
    • (1995) Am J Hum Genet , vol.57 , pp. 1371-1376
    • Speer, M.C.1    Gilchrist, J.M.2    Chutkow, J.G.3
  • 17
    • 0027240930 scopus 로고
    • Enhanced detection of Congo-red positive amyloid deposits in muscle fibers of inclusion-body myositis and brain of Alzheimer's disease using fluorescence technique
    • Askanas V, Engel WK, Alvarez RB. Enhanced detection of Congo-red positive amyloid deposits in muscle fibers of inclusion-body myositis and brain of Alzheimer's disease using fluorescence technique. Neurology 1993;43:1265-1267.
    • (1993) Neurology , vol.43 , pp. 1265-1267
    • Askanas, V.1    Engel, W.K.2    Alvarez, R.B.3
  • 18
    • 0027374166 scopus 로고
    • Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
    • Mirabella M, Servidei S, Manfredi G, et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993;43: 2342-2345.
    • (1993) Neurology , vol.43 , pp. 2342-2345
    • Mirabella, M.1    Servidei, S.2    Manfredi, G.3
  • 19
    • 0029944817 scopus 로고    scopus 로고
    • Use of antineurofilaments antibody to identify paired helical filaments in inclusion-body myositis
    • Askanas V, Alvarez RB, Mirabella M, Engel WK. Use of antineurofilaments antibody to identify paired helical filaments in inclusion-body myositis. Ann Neurol 1996;39:389-391.
    • (1996) Ann Neurol , vol.39 , pp. 389-391
    • Askanas, V.1    Alvarez, R.B.2    Mirabella, M.3    Engel, W.K.4
  • 20
    • 0024582686 scopus 로고
    • Abundant class of human DNA polymorphism which can be typed using the polymerase chain reaction
    • Weber JL, May PE. Abundant class of human DNA polymorphism which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.
    • (1989) Am J Hum Genet , vol.44 , pp. 388-396
    • Weber, J.L.1    May, P.E.2
  • 21
    • 12044249765 scopus 로고
    • Linkage of a gene causing familial lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity
    • Siddique T, Figlewicz DA, Pericack-Vance MA, et. al. Linkage of a gene causing familial lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 1991;324:1381-1384.
    • (1991) N Engl J Med , vol.324 , pp. 1381-1384
    • Siddique, T.1    Figlewicz, D.A.2    Pericack-Vance, M.A.3
  • 22
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5264 microsatellites
    • Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996;380:152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Fauré, S.2    Fizames, C.3
  • 24
    • 0039513062 scopus 로고
    • Computer-simulation methods in human linkage analysis
    • Ott J. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989;86:4175-4178.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 4175-4178
    • Ott, J.1
  • 25
    • 0029971055 scopus 로고    scopus 로고
    • Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies
    • Mirabella M, Alvarez RB, Bilak M, Engel WK, Askanas V. Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies. J Neuropathol Exp Neurol 1996; 55:774-786.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 774-786
    • Mirabella, M.1    Alvarez, R.B.2    Bilak, M.3    Engel, W.K.4    Askanas, V.5
  • 26
    • 0028894536 scopus 로고
    • Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders
    • Jongen PJ, Laak T, Stadhouders AM. Rimmed basophilic vacuoles and filamentous inclusions in neuromuscular disorders. Neuromuscul Disord 1995;5:31-38.
    • (1995) Neuromuscul Disord , vol.5 , pp. 31-38
    • Jongen, P.J.1    Laak, T.2    Stadhouders, A.M.3
  • 27
    • 0031901171 scopus 로고    scopus 로고
    • Overview of distal myopathies: From the clinical to the molecular
    • Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the clinical to the molecular. Neuromuscul Disord 1998;8:309-316.
    • (1998) Neuromuscul Disord , vol.8 , pp. 309-316
    • Barohn, R.J.1    Amato, A.A.2    Griggs, R.C.3
  • 28
    • 0028787389 scopus 로고
    • Inclusion body myositis and myopathies
    • Griggs RC, Askanas V, DiMauro S, et al. Inclusion body myositis and myopathies. Ann Neurol 1995;38:705-713.
    • (1995) Ann Neurol , vol.38 , pp. 705-713
    • Griggs, R.C.1    Askanas, V.2    Dimauro, S.3
  • 29
    • 0031864547 scopus 로고    scopus 로고
    • Sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Diseases of oxidative stress and aging?
    • Askanas V, Engel KW. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Diseases of oxidative stress and aging? Arch Neurol 1998;55:915-920.
    • (1998) Arch Neurol , vol.55 , pp. 915-920
    • Askanas, V.1    Engel, K.W.2
  • 31
    • 0029826654 scopus 로고    scopus 로고
    • The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews
    • Sivakumar K, Dalakas MC. The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews. Neurology 1996;47:977-984.
    • (1996) Neurology , vol.47 , pp. 977-984
    • Sivakumar, K.1    Dalakas, M.C.2
  • 32
    • 0031830345 scopus 로고    scopus 로고
    • Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
    • Darin N, Kyllerman M, Wahlstrom J, Martinsson T, Oldfords A. Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol 1998;44:242-248.
    • (1998) Ann Neurol , vol.44 , pp. 242-248
    • Darin, N.1    Kyllerman, M.2    Wahlstrom, J.3    Martinsson, T.4    Oldfords, A.5
  • 33
    • 0031768071 scopus 로고    scopus 로고
    • Sporadic inclusion body myositis and hereditary inclusion body myopathies: Current concepts of diagnosis and pathogenesis
    • Askanas V, Engel WK. Sporadic inclusion body myositis and hereditary inclusion body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol 1998;10: 530-542.
    • (1998) Curr Opin Rheumatol , vol.10 , pp. 530-542
    • Askanas, V.1    Engel, W.K.2
  • 34
    • 0028120746 scopus 로고
    • Autosomal dominant distal myopathy with desmin storage: A clinicopathologic and electrophysiologic study of a large kinship
    • Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 1994;17: 151-160.
    • (1994) Muscle Nerve , vol.17 , pp. 151-160
    • Horowitz, S.H.1    Schmalbruch, H.2
  • 35
    • 9244247344 scopus 로고    scopus 로고
    • Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy
    • Wilhelmsen KC, Blake DM, Lynch T, et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996;39:507-520.
    • (1996) Ann Neurol , vol.39 , pp. 507-520
    • Wilhelmsen, K.C.1    Blake, D.M.2    Lynch, T.3
  • 36
    • 0032518613 scopus 로고    scopus 로고
    • Region of sex-specific hypo- and hyperrecombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19
    • Mohrenweiser HW, Tsujimoto S, Gordon L, Olsen AS. Region of sex-specific hypo- and hyperrecombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19. Genomics 1998;15: 153-162.
    • (1998) Genomics , vol.15 , pp. 153-162
    • Mohrenweiser, H.W.1    Tsujimoto, S.2    Gordon, L.3    Olsen, A.S.4
  • 37
    • 0028866218 scopus 로고
    • An integrated metric physical map of human chromosome 19
    • Ashworth LK, Batzer MA, Brandriff B, et al. An integrated metric physical map of human chromosome 19. Nat Genet 1995;11:422-427.
    • (1995) Nat Genet , vol.11 , pp. 422-427
    • Ashworth, L.K.1    Batzer, M.A.2    Brandriff, B.3
  • 38
    • 0344599678 scopus 로고    scopus 로고
    • An integrated genetic and physical map of chromosome 19 as substrate for large scale genomic sequencing
    • Abstract
    • Olsen AS, Gordon LA, Ashworth LK, et al. An integrated genetic and physical map of chromosome 19 as substrate for large scale genomic sequencing. Am J Hum Genet 1997; 61(suppl):1399. Abstract.
    • (1997) Am J Hum Genet , vol.61 , Issue.SUPPL. , pp. 1399
    • Olsen, A.S.1    Gordon, L.A.2    Ashworth, L.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.