메뉴 건너뛰기




Volumn 8, Issue 5, 1998, Pages 327-332

Tibial muscular dystrophy - from clinical description to linkage on chromosome 2q31

Author keywords

Autosomal dominant; Clinical; Distal myopathy; Epidemiology; Genetic linkage; Morphology

Indexed keywords

CONNECTIN; GENE PRODUCT; MUSCLE PROTEIN;

EID: 0031925821     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00024-8     Document Type: Conference Paper
Times cited : (48)

References (30)
  • 1
    • 0027278526 scopus 로고
    • Tibial muscular dystrophy - Late adult onset distal myopathy in 66 Finnish patients
    • Udd B., Partanen J., Halonen P.et al. Tibial muscular dystrophy - late adult onset distal myopathy in 66 Finnish patients. Arch Neurol. 50:1993;604-608.
    • (1993) Arch Neurol , vol.50 , pp. 604-608
    • Udd, B.1    Partanen, J.2    Halonen, P.3
  • 4
    • 0344966703 scopus 로고
    • Autosomal recessive muscular dystrophy in a large family
    • Udd B. Autosomal recessive muscular dystrophy in a large family (abstract). J Neurol Sci. 98S:1990;464.
    • (1990) J Neurol Sci , vol.98 S , pp. 464
    • Udd, B.1
  • 5
    • 0026005315 scopus 로고
    • Muscular dystrophy with separate phenotypes in a large family
    • Udd B., Kääriäinen H., Somer H. Muscular dystrophy with separate phenotypes in a large family. Muscle Nerve. 14:1991;1050-1058.
    • (1991) Muscle Nerve , vol.14 , pp. 1050-1058
    • Udd, B.1    Kääriäinen, H.2    Somer, H.3
  • 7
    • 0026621979 scopus 로고
    • Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and limb-girdle type muscular dystrophy
    • Udd B., Rapola J., Nokelainen P., Arikawa E., Somer H. Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and limb-girdle type muscular dystrophy. J Neurol Sci. 113:1992;214-221.
    • (1992) J Neurol Sci , vol.113 , pp. 214-221
    • Udd, B.1    Rapola, J.2    Nokelainen, P.3    Arikawa, E.4    Somer, H.5
  • 8
    • 0000114741 scopus 로고
    • Distal myopathies
    • Engel AG, Franzini-Armstrong C, eds., New York: McGraw-Hill
    • Griggs R, Markesbery W. Distal myopathies. In: Engel AG, Franzini-Armstrong C, eds. Myology, 2nd edn. New York: McGraw-Hill, 1994:1246-1257.
    • (1994) Myology, 2nd Edn. , pp. 1246-1257
    • Griggs, R.1    Markesbery, W.2
  • 9
    • 0027933978 scopus 로고
    • Late onset foot-drop muscular dystrophy with rimmed vacuoles
    • Partanen J., Laulumaa V., Partanen K., Paljärvi L. Late onset foot-drop muscular dystrophy with rimmed vacuoles. J Neurol Sci. 125:1994;158-167.
    • (1994) J Neurol Sci , vol.125 , pp. 158-167
    • Partanen, J.1    Laulumaa, V.2    Partanen, K.3    Paljärvi, L.4
  • 10
    • 0344104236 scopus 로고
    • Tibial muscular dystrophy
    • Udd B., Somer H. Tibial muscular dystrophy (abstract). Neurology. 43:1993;A202.
    • (1993) Neurology , vol.43 , pp. 202
    • Udd, B.1    Somer, H.2
  • 11
    • 0026777275 scopus 로고
    • Limb-girdle type muscular dystrophy in a large family with distal myopathy: A homozygous manifestation of a dominant gene?
    • Udd B. Limb-girdle type muscular dystrophy in a large family with distal myopathy: a homozygous manifestation of a dominant gene? J Med Gen. 29:1992;383-390.
    • (1992) J Med Gen , vol.29 , pp. 383-390
    • Udd, B.1
  • 12
    • 0026350030 scopus 로고
    • Imaging methods reveal unexpected patchy lesions in late onset distal myopathy
    • Udd B., Lamminen A., Somer H. Imaging methods reveal unexpected patchy lesions in late onset distal myopathy. Neuromusc Disord. 1:1991;271-280.
    • (1991) Neuromusc Disord , vol.1 , pp. 271-280
    • Udd, B.1    Lamminen, A.2    Somer, H.3
  • 13
    • 0344535734 scopus 로고    scopus 로고
    • Immunohistochemistry and ultrastructure of rimmed vacuolar fibers in tibial muscular dystrophy
    • Udd B., Somer H., Paetau A., Kalimo H. Immunohistochemistry and ultrastructure of rimmed vacuolar fibers in tibial muscular dystrophy (abstract). Neuromusc Disord. 7:1997;459.
    • (1997) Neuromusc Disord , vol.7 , pp. 459
    • Udd, B.1    Somer, H.2    Paetau, A.3    Kalimo, H.4
  • 15
    • 0344966700 scopus 로고
    • Focal cytoplasmic degradation and autophagic mechanisms
    • Engel AG, Franzini-Armstrong C, eds., Chapter 36. New York: McGraw-Hill
    • Engel AG, Banker B. Focal cytoplasmic degradation and autophagic mechanisms. In: Engel AG, Franzini-Armstrong C, eds. Myology, 2nd edn. Chapter 36. New York: McGraw-Hill, 1994:966-975.
    • (1994) Myology, 2nd Edn. , pp. 966-975
    • Engel, A.G.1    Banker, B.2
  • 16
    • 0028787389 scopus 로고
    • Inclusion body myositis and myopathies
    • Griggs R., Askanas V., DiMauro S. Inclusion body myositis and myopathies. Ann Neurol. 38:1995;705-713.
    • (1995) Ann Neurol , vol.38 , pp. 705-713
    • Griggs, R.1    Askanas, V.2    DiMauro, S.3
  • 17
    • 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 R., Bilak M., Engel W.K., Askanas V. Difference in expression of phosphorylated tau epitopes between sporadic inclusion-body myositis and hereditary inclusion-body myopathies. J Neuropathol Exp Neurol. 55:1996;774-786.
    • (1996) J Neuropathol Exp Neurol , vol.55 , pp. 774-786
    • Mirabella, M.1    Alvarez, R.2    Bilak, M.3    Engel, W.K.4    Askanas, V.5
  • 18
    • 0030891310 scopus 로고    scopus 로고
    • New developments in hereditary inclusion body myopathies
    • Askanas V. New developments in hereditary inclusion body myopathies. Ann Neurol. 41:1997;421-422.
    • (1997) Ann Neurol , vol.41 , pp. 421-422
    • Askanas, V.1
  • 19
    • 0028824480 scopus 로고
    • Titins: Giant proteins in charge of muscle ultrastructure and elasticity
    • Labeit S., Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science. 270:1995;293-296.
    • (1995) Science , vol.270 , pp. 293-296
    • Labeit, S.1    Kolmerer, B.2
  • 20
    • 0031016596 scopus 로고    scopus 로고
    • The giant protein titin - Emerging roles in physiology and pathophysiology
    • Labeit S., Kolmerer B., Linke W. The giant protein titin - emerging roles in physiology and pathophysiology. Circ Res. 80:1997;290-294.
    • (1997) Circ Res , vol.80 , pp. 290-294
    • Labeit, S.1    Kolmerer, B.2    Linke, W.3
  • 21
    • 0028905205 scopus 로고
    • Mutations in the proteolytic enzyme calpain3 cause limb-girdle muscular dystrophy type 2A
    • Richard I., Broux O., Allamand V.et al. Mutations in the proteolytic enzyme calpain3 cause limb-girdle muscular dystrophy type 2A. Cell. 81:1995;27-40.
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3
  • 22
    • 0030929664 scopus 로고    scopus 로고
    • Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1
    • Argov Z., Tiram E., Eisenberg I.et al. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol. 41:1997;548-551.
    • (1997) Ann Neurol , vol.41 , pp. 548-551
    • Argov, Z.1    Tiram, E.2    Eisenberg, I.3
  • 23
    • 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. 41:1997;432-437.
    • (1997) Ann Neurol , vol.41 , pp. 432-437
    • Ikeuchi, T.1    Asaka, T.2    Saito, M.3
  • 24
    • 0032055022 scopus 로고    scopus 로고
    • Welander distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies
    • in press
    • Åhlberg G, Borg K, Edström L, Anvret M. Welander distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. Neuromusc Disord 1998:in press.
    • (1998) Neuromusc Disord
    • Åhlberg, G.1    Borg, K.2    Edström, L.3    Anvret, M.4
  • 26
    • 0345398104 scopus 로고    scopus 로고
    • Distal myopathy of Miyoshi type: Report of 21 French cases
    • Eymard B., Laforet P., Tomé F. Distal myopathy of Miyoshi type: report of 21 French cases (abstract). Neuromusc Disord. 7:1997;461.
    • (1997) Neuromusc Disord , vol.7 , pp. 461
    • Eymard, B.1    Laforet, P.2    Tomé, F.3
  • 28
    • 0344104235 scopus 로고    scopus 로고
    • Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration
    • Kuntzer T., Lobrinus A., Janzer R., Matthieu J.-M. Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration (abstract). Neuromusc Disord. 7:1997;462.
    • (1997) Neuromusc Disord , vol.7 , pp. 462
    • Kuntzer, T.1    Lobrinus, A.2    Janzer, R.3    Matthieu, J.-M.4
  • 29
    • 0344535733 scopus 로고    scopus 로고
    • Miyoshi-type distal muscular dystrophy: Clinical features of 24 Dutch patients
    • Linssen W., DeVisser M., Notermans N.et al. Miyoshi-type distal muscular dystrophy: clinical features of 24 Dutch patients (abstract). Neuromusc Disord. 7:1997;462.
    • (1997) Neuromusc Disord , vol.7 , pp. 462
    • Linssen, W.1    DeVisser, M.2    Notermans, N.3
  • 30
    • 0344966699 scopus 로고    scopus 로고
    • Distal myopathy of Miyoshi and Nonaka types: A clinical, pathological and quantitative EMG study of 7 cases
    • Fernandez J., Gamez J., Cervera C.et al. Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases (abstract). Neuromusc Disord. 7:1997;462-463.
    • (1997) Neuromusc Disord , vol.7 , pp. 462-463
    • Fernandez, J.1    Gamez, J.2    Cervera, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.