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Volumn 120, Issue 2, 2009, Pages 111-118

Pattern of skeletal muscle involvement in primary dysferlinopathies: A whole-body 3.0-T magnetic resonance imaging study

Author keywords

Dysferlin; Dysferlinopathies; High field magnetic resonance imaging; Limb girdle muscular dystrophy type 2B; Miyoshi myopathy

Indexed keywords

DYSFERLIN;

EID: 67651232854     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2008.01129.x     Document Type: Article
Times cited : (60)

References (30)
  • 1
    • 0022634885 scopus 로고
    • Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case
    • Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain 1986 109 : 31 54.
    • (1986) Brain , vol.109 , pp. 31-54
    • Miyoshi, K.1    Kawai, H.2    Iwasa, M.3    Kusaka, K.4    Nishino, H.5
  • 2
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998 20 : 37 42.
    • (1998) Nat Genet , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3
  • 3
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998 20 : 31 6.
    • (1998) Nat Genet , vol.20 , pp. 31-6
    • Liu, J.1    Aoki, M.2    Illa, I.3
  • 4
    • 0035109410 scopus 로고    scopus 로고
    • Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
    • Illa I, Serrano-Munuera C, Gallardo E et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001 49 : 130 4.
    • (2001) Ann Neurol , vol.49 , pp. 130-4
    • Illa, I.1    Serrano-Munuera, C.2    Gallardo, E.3
  • 5
    • 34547882325 scopus 로고    scopus 로고
    • Phenotypic study in 40 patients with dysferlin gene mutations: High frequency of atypical phenotypes
    • Nguyen K, Bassez G, Krahn M et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007 64 : 1176 82.
    • (2007) Arch Neurol , vol.64 , pp. 1176-82
    • Nguyen, K.1    Bassez, G.2    Krahn, M.3
  • 6
    • 0034719093 scopus 로고    scopus 로고
    • Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
    • Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 2000 55 : 1931 3.
    • (2000) Neurology , vol.55 , pp. 1931-3
    • Illarioshkin, S.N.1    Ivanova-Smolenskaya, I.A.2    Greenberg, C.R.3
  • 7
    • 0032897762 scopus 로고    scopus 로고
    • Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
    • Weiler T, Bashir R, Anderson LV et al. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 1999 8 : 871 7.
    • (1999) Hum Mol Genet , vol.8 , pp. 871-7
    • Weiler, T.1    Bashir, R.2    Anderson, L.V.3
  • 8
    • 0035943022 scopus 로고    scopus 로고
    • Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
    • Aoki M, Liu J, Richard I et al. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001 57 : 271 8.
    • (2001) Neurology , vol.57 , pp. 271-8
    • Aoki, M.1    Liu, J.2    Richard, I.3
  • 9
    • 0037738510 scopus 로고    scopus 로고
    • Defective membrane repair in dysferlin-deficient muscular dystrophy
    • Bansal D, Miyake K, Vogel SS et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003 423 : 168 72.
    • (2003) Nature , vol.423 , pp. 168-72
    • Bansal, D.1    Miyake, K.2    Vogel, S.S.3
  • 10
    • 33344455688 scopus 로고    scopus 로고
    • Intracellular localization of dysferlin and its association with the dihydropyridine receptor
    • Ampong BN, Imamura M, Matsumiya T, Yoshida M, Takeda S. Intracellular localization of dysferlin and its association with the dihydropyridine receptor. Acta Myol 2005 24 : 134 44.
    • (2005) Acta Myol , vol.24 , pp. 134-44
    • Ampong, B.N.1    Imamura, M.2    Matsumiya, T.3    Yoshida, M.4    Takeda, S.5
  • 11
    • 0038629355 scopus 로고    scopus 로고
    • Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients
    • Tagawa K, Ogawa M, Kawabe K et al. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. J Neurol Sci 2003 211 : 23 8.
    • (2003) J Neurol Sci , vol.211 , pp. 23-8
    • Tagawa, K.1    Ogawa, M.2    Kawabe, K.3
  • 12
    • 33746001621 scopus 로고    scopus 로고
    • Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies
    • Nguyen K, Bassez G, Bernard R et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 2005 26 : 165.
    • (2005) Hum Mutat , vol.26 , pp. 165
    • Nguyen, K.1    Bassez, G.2    Bernard, R.3
  • 14
    • 27644489015 scopus 로고    scopus 로고
    • Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations
    • Brummer D, Walter MC, Palmbach M et al. Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myol 2005 24 : 6 16.
    • (2005) Acta Myol , vol.24 , pp. 6-16
    • Brummer, D.1    Walter, M.C.2    Palmbach, M.3
  • 15
    • 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 47.
    • (2005) J Neurol , vol.252 , pp. 538-47
    • Fischer, D.1    Walter, M.C.2    Kesper, K.3
  • 17
    • 0030787520 scopus 로고    scopus 로고
    • Improved splice site detection in genie
    • Available at. (accessed on 18 November 2007).
    • Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in genie. J Comp Biol 1997 4 : 311 23. Berkeley Drosophila Genome Project. Available at: http://www.fruitfly.org/seq-tools/splice.html (accessed on 18 November 2007).
    • (1997) J Comp Biol , vol.4 , pp. 311-23
    • Reese, M.G.1    Eeckman, F.H.2    Kulp, D.3    Haussler, D.4
  • 18
    • 33745557426 scopus 로고    scopus 로고
    • Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2: A whole-body highfield MRI study
    • Kornblum C, Lutterbey G, Bogdanow M et al. Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2: a whole-body highfield MRI study. J Neurol 2006 253 : 753 61.
    • (2006) J Neurol , vol.253 , pp. 753-61
    • Kornblum, C.1    Lutterbey, G.2    Bogdanow, M.3
  • 19
    • 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, Moghadaszadeh B et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 2002 12 : 631 8.
    • (2002) Neuromuscul Disord , vol.12 , pp. 631-8
    • Mercuri, E.1    Talim, B.2    Moghadaszadeh, B.3
  • 20
    • 33746701373 scopus 로고    scopus 로고
    • Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies
    • Cagliani R, Magri F, Toscano A et al. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum Mutat 2005 26 : 283.
    • (2005) Hum Mutat , vol.26 , pp. 283
    • Cagliani, R.1    Magri, F.2    Toscano, A.3
  • 21
    • 3242804731 scopus 로고    scopus 로고
    • Leiden. Center for Human and clinical genetics, Leiden University Medical Center. Available at. (accessed on 18 November 2007).
    • Den Dunnen JT. Leiden muscular dystrophy pages. Leiden : Center for Human and clinical genetics, Leiden University Medical Center. Available at: http://www.dmd.nl (accessed on 18 November 2007).
    • Leiden Muscular Dystrophy Pages.
    • Den Dunnen, J.T.1
  • 23
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • Den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001 109 : 121 4.
    • (2001) Hum Genet , vol.109 , pp. 121-4
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 24
    • 22844444193 scopus 로고    scopus 로고
    • Whole-body MRI at high field: Technical limits and clincial potential
    • Schick F. Whole-body MRI at high field: technical limits and clincial potential. Eur Radiol 2005 15 : 946 59.
    • (2005) Eur Radiol , vol.15 , pp. 946-59
    • Schick, F.1
  • 25
    • 34247226211 scopus 로고    scopus 로고
    • Symptomatic dysferlin gene mutation carriers: Characterization of two cases
    • Illa I, De Luna N, Dominguez-Perles R et al. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology 2007 68 : 1284 9.
    • (2007) Neurology , vol.68 , pp. 1284-9
    • Illa, I.1    De Luna, N.2    Dominguez-Perles, R.3
  • 26
    • 0031878338 scopus 로고    scopus 로고
    • Miyoshi myopathy in Saudi Arabia: Clinical, electrophysiological, histopathological and radiological features
    • Cupler EJ, Bohlega S, Hessler R, Mclean D, Stigsby B, Ahmad J. Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromuscul Disord 1998 8 : 321 6.
    • (1998) Neuromuscul Disord , vol.8 , pp. 321-6
    • Cupler, E.J.1    Bohlega, S.2    Hessler, R.3    McLean, D.4    Stigsby, B.5    Ahmad, J.6
  • 27
    • 0030951089 scopus 로고    scopus 로고
    • Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
    • Eymard B, Romero NB, Leturcq F et al. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997 48 : 1227 34.
    • (1997) Neurology , vol.48 , pp. 1227-34
    • Eymard, B.1    Romero, N.B.2    Leturcq, F.3
  • 28
    • 0025241450 scopus 로고
    • Magnetic resonance imaging of primary skeletal muscle diseases: Patterns of distribution and severity of involvement
    • Lamminen AE. Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. Br J Radiol 1990 63 : 946 50.
    • (1990) Br J Radiol , vol.63 , pp. 946-50
    • Lamminen, A.E.1
  • 29
    • 0027472913 scopus 로고
    • Duchenne muscular dystrophy: MR grading system with functional correlation
    • Liu GC, Jong YJ, Chiang CH, Jaw TS. Duchenne muscular dystrophy: MR grading system with functional correlation. Radiology 1993 186 : 475 80.
    • (1993) Radiology , vol.186 , pp. 475-80
    • Liu, G.C.1    Jong, Y.J.2    Chiang, C.H.3    Jaw, T.S.4
  • 30
    • 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. Neuromuscul Disord 1997 7 : 505 11.
    • (1997) Neuromuscul Disord , vol.7 , pp. 505-11
    • Lodi, R.1    Muntoni, F.2    Taylor, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.