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Volumn 18, Issue 5, 2005, Pages 526-537

Muscle imaging in clinical practice: Diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders

Author keywords

Dystrophies; Genetic; Imaging; Muscle magnetic resonance imaging; Myopathies

Indexed keywords

BETHLEM MYOPATHY; CHEMICAL ANALYSIS; CLINICAL PRACTICE; DIAGNOSTIC VALUE; DUCHENNE MUSCULAR DYSTROPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; INHERITANCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE EXAMINATION; MUSCULAR DYSTROPHY; MYOPATHY; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; REVIEW;

EID: 26944484790     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wco.0000183947.01362.fe     Document Type: Review
Times cited : (95)

References (32)
  • 1
    • 0025241450 scopus 로고
    • Magnetic resonance imaging of primary skeletal muscle disease: Patterns of distribution and severity of involvement
    • Lamminen AE. Magnetic resonance imaging of primary skeletal muscle disease: patterns of distribution and severity of involvement. Br J Radiol 1990; 63:946-950.
    • (1990) Br J Radiol , vol.63 , pp. 946-950
    • Lamminen, A.E.1
  • 2
    • 0026073326 scopus 로고
    • Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy: Serial axial and sagittal section studies
    • Nagao H, Morimoto T, Sano N, et al. Magnetic resonance imaging of skeletal muscle in patients with Duchenne muscular dystrophy: serial axial and sagittal section studies. No To Hattatsu 1991; 23:39-43.
    • (1991) No to Hattatsu , vol.23 , pp. 39-43
    • Nagao, H.1    Morimoto, T.2    Sano, N.3
  • 3
    • 0023874298 scopus 로고
    • Proton spin-lattice relaxation time of Duchenne dystrophy skeletal muscle by magnetic resonance imaging
    • Matsumura K, Nakano I, Fukuda N, et al. Proton spin-lattice relaxation time of Duchenne dystrophy skeletal muscle by magnetic resonance imaging. Muscle Nerve 1988; 11:97-102.
    • (1988) Muscle Nerve , vol.11 , pp. 97-102
    • Matsumura, K.1    Nakano, I.2    Fukuda, N.3
  • 4
    • 26944450351 scopus 로고    scopus 로고
    • Magnetic resonance imaging and spectroscopy of muscle: Muscular dystrophies
    • Karpati G, Hilton-Jones D, Griggs RC, editors. Cambridge, UK: Cambridge University Press
    • Taylor DJ, Fleckenstein JL, Lodi R. Magnetic resonance imaging and spectroscopy of muscle: muscular dystrophies. In: Karpati G, Hilton-Jones D, Griggs RC, editors. Disorders of voluntary muscles, 7th ed. Cambridge, UK: Cambridge University Press; 2001. pp. 333-335.
    • (2001) Disorders of Voluntary Muscles, 7th Ed. , pp. 333-335
    • Taylor, D.J.1    Fleckenstein, J.L.2    Lodi, R.3
  • 5
    • 0027176902 scopus 로고
    • Muscle damage progression in Duchenne muscular dystrophy evaluated by a new quantitative computed tomographic method
    • Liu M, Chino H, Ishihara T. Muscle damage progression in Duchenne muscular dystrophy evaluated by a new quantitative computed tomographic method. Arch Phys Med Rehabil 1993; 73:507-514.
    • (1993) Arch Phys Med Rehabil , vol.73 , pp. 507-514
    • Liu, M.1    Chino, H.2    Ishihara, T.3
  • 6
    • 13444302401 scopus 로고    scopus 로고
    • Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
    • Mercuri E, Bushby K, Ricci E, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromusc Disord 2005; 15:164-171. This report describes the value of muscle MRI in identifying patients with LGMD2A who have an overlapping clinical phenotype with EDMD.
    • (2005) Neuromusc Disord , vol.15 , pp. 164-171
    • Mercuri, E.1    Bushby, K.2    Ricci, E.3
  • 7
    • 20044372006 scopus 로고    scopus 로고
    • Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
    • Fischer D, Walter MC, Kesper K, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005; 252:538-247. The authors describe similarities and differences between genetically different forms of LGMD.
    • (2005) J Neurol , vol.252 , pp. 538-1247
    • Fischer, D.1    Walter, M.C.2    Kesper, K.3
  • 8
    • 0031439460 scopus 로고    scopus 로고
    • Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy
    • Lodi R, Muntoni F, Taylor J, et al. Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy. Neuromusc Disord 1997; 7:505-511.
    • (1997) Neuromusc Disord , vol.7 , pp. 505-511
    • Lodi, R.1    Muntoni, F.2    Taylor, J.3
  • 9
    • 0030482285 scopus 로고    scopus 로고
    • Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy
    • Sewry CA, Taylor J, Anderson LV, et al. Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromusc Disord 1996; 6:467-474.
    • (1996) Neuromusc Disord , vol.6 , pp. 467-474
    • Sewry, C.A.1    Taylor, J.2    Anderson, L.V.3
  • 10
    • 0029819061 scopus 로고    scopus 로고
    • Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy
    • Meola G, Sansone V, Rotondo G, Jabbour A. Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy. Muscle Nerve 1996; 19:1476-1480.
    • (1996) Muscle Nerve , vol.19 , pp. 1476-1480
    • Meola, G.1    Sansone, V.2    Rotondo, G.3    Jabbour, A.4
  • 11
    • 0029845713 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
    • Weiler T, Greenberg CR, Nylen E, et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 1996; 59:872-878.
    • (1996) Am J Hum Genet , vol.59 , pp. 872-878
    • Weiler, T.1    Greenberg, C.R.2    Nylen, E.3
  • 12
    • 0035836751 scopus 로고    scopus 로고
    • Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
    • Haravuori H, Vihola A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001; 56:869-877.
    • (2001) Neurology , vol.56 , pp. 869-877
    • Haravuori, H.1    Vihola, A.2    Straub, V.3
  • 13
    • 0031878796 scopus 로고    scopus 로고
    • Genetic heterogeneity in Miyoshi-type distal muscular dystrophy
    • Linssen WH, de Visser M, Notermans NC, et al. Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromusc Disord 1998; 8:317-320.
    • (1998) Neuromusc Disord , vol.8 , pp. 317-320
    • Linssen, W.H.1    De Visser, M.2    Notermans, N.C.3
  • 14
    • 0031878338 scopus 로고    scopus 로고
    • Miyoshi myopathy in Saudi Arabia: Clinical, electrophysiological, histopathological and radiological features
    • Cupler EJ, Bohlega S, Hessler R, et al. Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromusc Disord 1998; 8:321-326.
    • (1998) Neuromusc Disord , vol.8 , pp. 321-326
    • Cupler, E.J.1    Bohlega, S.2    Hessler, R.3
  • 15
    • 0030730609 scopus 로고    scopus 로고
    • Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients
    • Linssen WH, Notermans NC, Van der Graaf Y, et al. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain 1997; 120:1989-1996.
    • (1997) Brain , vol.120 , pp. 1989-1996
    • Linssen, W.H.1    Notermans, N.C.2    Van Der Graaf, Y.3
  • 16
    • 2442589924 scopus 로고    scopus 로고
    • Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy
    • Suzuki N, Aoki M, Takahashi T, et al. Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. Muscle Nerve 2004; 29:721-723.
    • (2004) Muscle Nerve , vol.29 , pp. 721-723
    • Suzuki, N.1    Aoki, M.2    Takahashi, T.3
  • 17
    • 0033971244 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study
    • Flanigan KM, Kerr L, Bromberg MB, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol 2000; 47:152-161.
    • (2000) Ann Neurol , vol.47 , pp. 152-161
    • Flanigan, K.M.1    Kerr, L.2    Bromberg, M.B.3
  • 18
    • 0036787899 scopus 로고    scopus 로고
    • Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
    • Mercuri E, Talim B, Moghdaszadeh B, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromusc Disord 2002; 12:631-638.
    • (2002) Neuromusc Disord , vol.12 , pp. 631-638
    • Mercuri, E.1    Talim, B.2    Moghdaszadeh, B.3
  • 19
    • 0042071483 scopus 로고    scopus 로고
    • Muscle magnetic resonance imaging in patients with Ullrich congenital muscular dystrophy
    • Mercuri E, Cini C, Pichiecchio A, et al. Muscle magnetic resonance imaging in patients with Ullrich congenital muscular dystrophy. Neuromusc Disord 2003; 13:554-557.
    • (2003) Neuromusc Disord , vol.13 , pp. 554-557
    • Mercuri, E.1    Cini, C.2    Pichiecchio, A.3
  • 20
    • 20144389374 scopus 로고    scopus 로고
    • Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
    • Mercuri E, Lampe A, Allsopp J, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromusc Disord 2005; 15:303-310. This paper provides an interesting description of the patterns observed in the Ullrich CMD and Bethlem myopathy but also of the overlap between the two forms.
    • (2005) Neuromusc Disord , vol.15 , pp. 303-310
    • Mercuri, E.1    Lampe, A.2    Allsopp, J.3
  • 21
    • 0036203649 scopus 로고    scopus 로고
    • Selective muscle involvement on magnetic resonance imaging in autosomal-dominant Emery-Dreifuss muscular dystrophy
    • Mercuri E, Counsell S, Allsop J, et al. Selective muscle involvement on magnetic resonance imaging in autosomal-dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 2002; 33:10-14. This paper describes how muscle MRI can identify patients with dominant and X-linked forms of EDMD, in whom there is significant clinical overlap.
    • (2002) Neuropediatrics , vol.33 , pp. 10-14
    • Mercuri, E.1    Counsell, S.2    Allsop, J.3
  • 22
    • 8744279211 scopus 로고    scopus 로고
    • Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
    • Vantyghem MC, Pigny P, Maurage CA, et al. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab 2004; 89:5337-5346.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 5337-5346
    • Vantyghem, M.C.1    Pigny, P.2    Maurage, C.A.3
  • 23
    • 0037183491 scopus 로고    scopus 로고
    • Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    • van der Kooi AJ, Bonne G, Eymard B, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002; 27:620-623.
    • (2002) Neurology , vol.27 , pp. 620-623
    • Van Der Kooi, A.J.1    Bonne, G.2    Eymard, B.3
  • 24
    • 5144223640 scopus 로고    scopus 로고
    • Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
    • Jungbluth H, Davis MR, Muller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromusc Disord 2004; 14:785-790. This report paper describes muscle MRI findings in different subgroups of congenital myopathies subdivided according to the most recent genetic classification.
    • (2004) Neuromusc Disord , vol.14 , pp. 785-790
    • Jungbluth, H.1    Davis, M.R.2    Muller, C.3
  • 25
    • 9644288164 scopus 로고    scopus 로고
    • Magnetic resonance imaging of muscle in nemaline myopathy
    • Jungbluth H, Sewry CA, Counsell S, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromusc Disord 2004; 14:779-784. This report describes muscle MRI findings in different subgroups of congenital myopathies subdivided according to the most recent genetic classification.
    • (2004) Neuromusc Disord , vol.14 , pp. 779-784
    • Jungbluth, H.1    Sewry, C.A.2    Counsell, S.3
  • 26
    • 0035144733 scopus 로고    scopus 로고
    • Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
    • Jungbluth H, Sewry CA, Brown SC, et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromusc Disord 2001; 11:35-41.
    • (2001) Neuromusc Disord , vol.11 , pp. 35-41
    • Jungbluth, H.1    Sewry, C.A.2    Brown, S.C.3
  • 27
    • 0033757859 scopus 로고    scopus 로고
    • Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases
    • Ferreiro A, Estournet B, Chateau D, et al. Multi-minicore disease - searching for boundaries: phenotype analysis of 38 cases. Ann Neurol 2000; 48:745-757.
    • (2000) Ann Neurol , vol.48 , pp. 745-757
    • Ferreiro, A.1    Estournet, B.2    Chateau, D.3
  • 28
    • 17144463714 scopus 로고    scopus 로고
    • Minicore myopathy in children: A clinical and histopathological study of 19 cases
    • Jungbluth H, Sewry C, Brown SC, et al. Minicore myopathy in children: a clinical and histopathological study of 19 cases. Neuromusc Disord 2000; 10:264-273.
    • (2000) Neuromusc Disord , vol.10 , pp. 264-273
    • Jungbluth, H.1    Sewry, C.2    Brown, S.C.3
  • 29
    • 0037162335 scopus 로고    scopus 로고
    • Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
    • Jungbluth H, Müller CR, Halliger-Keller B, et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 2002; 59:284-287.
    • (2002) Neurology , vol.59 , pp. 284-287
    • Jungbluth, H.1    Müller, C.R.2    Halliger-Keller, B.3
  • 30
    • 5144224992 scopus 로고    scopus 로고
    • 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop; 9-11 November2002; Naarden, the Netherlands
    • Jungbluth H, Beggs A, Bonnemann C, et al. 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop; 9-11 November 2002; Naarden, The Netherlands. Neuromusc Disord 2004; 14:754-766.
    • (2004) Neuromusc Disord , vol.14 , pp. 754-766
    • Jungbluth, H.1    Beggs, A.2    Bonnemann, C.3
  • 31
    • 0036999976 scopus 로고    scopus 로고
    • Muscle MRI findings in a three-generation family affected by Bethlem myopathy
    • Mercuri E, Cini C, Counsell S, et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol 2002; 6:309-314.
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 309-314
    • Mercuri, E.1    Cini, C.2    Counsell, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.