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Volumn 32, Issue 1, 2010, Pages 41-46

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)

Author keywords

Calpain 3; Clinical course; Dysferlin; LGMD

Indexed keywords

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE COURSE; FEMALE; FUNCTIONAL ASSESSMENT; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2A; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B; MALE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; RATING SCALE; SCHOOL CHILD;

EID: 77949457256     PISSN: 01616412     EISSN: None     Source Type: Journal    
DOI: 10.1179/174313209X380847     Document Type: Article
Times cited : (55)

References (25)
  • 1
    • 13844275664 scopus 로고    scopus 로고
    • The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
    • Fanin M, Nascimbeni AC, Fulizio L, et al. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord 2005; 15: 218-224
    • (2005) Neuromuscul Disord , vol.15 , pp. 218-224
    • Fanin, M.1    Nascimbeni, A.C.2    Fulizio, L.3
  • 2
    • 24944464625 scopus 로고    scopus 로고
    • Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
    • Piluso G, Politano L, Aurino S, et al. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet 2005; 42: 686-693
    • (2005) J Med Genet , vol.42 , pp. 686-693
    • Piluso, G.1    Politano, L.2    Aurino, S.3
  • 3
    • 0038308480 scopus 로고    scopus 로고
    • Localization of calpain 3 in human skeletal muscle and its alterations in limb-girdle muscular dystrophy 2A muscle
    • Keira Y, Noguchi S, Minami N, et al. Localization of calpain 3 in human skeletal muscle and its alterations in limb-girdle muscular dystrophy 2A muscle. J Biochem 2003; 133: 659-664
    • (2003) J Biochem , vol.133 , pp. 659-664
    • Keira, Y.1    Noguchi, S.2    Minami, N.3
  • 4
    • 0028905205 scopus 로고
    • Mutations in the proteolytic calpain 3 cause limb-girdle muscular dystrophy type 2A
    • Richard I, Broux O, Allamand V, et al. Mutations in the proteolytic calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40
    • (1995) Cell , vol.81 , pp. 27-40
    • Richard, I.1    Broux, O.2    Allamand, V.3
  • 5
    • 13344285357 scopus 로고
    • Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
    • Sorimachi H, Kinbara K, Kimura S, et al. Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J Biol Chem 1995; 270: 31158-31162
    • (1995) J Biol Chem , vol.270 , pp. 31158-31162
    • Sorimachi, H.1    Kinbara, K.2    Kimura, S.3
  • 6
    • 0032941594 scopus 로고    scopus 로고
    • Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB, pathway in LGMD type 2A
    • Baghdiguian S, Martin M, Richard I, et al. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkBa/NF-kB pathway in LGMD type 2A. Nat Med 1999; 5: 503-511
    • (1999) Nat Med , vol.5 , pp. 503-511
    • Baghdiguian, S.1    Martin, M.2    Richard, I.3
  • 7
    • 26444610334 scopus 로고    scopus 로고
    • Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway
    • Kramerova I, Kudryashova E, Venkatraman G, et al. Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway. Hum Mol Genet 2005; 14: 2125-2134
    • (2005) Hum Mol Genet , vol.14 , pp. 2125-2134
    • Kramerova, I.1    Kudryashova, E.2    Venkatraman, G.3
  • 8
    • 0000042975 scopus 로고
    • On the classification, natural history and treatment of the myopathies
    • Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954; 77: 169-231
    • (1954) Brain , vol.77 , pp. 169-231
    • Walton, J.N.1    Nattrass, F.J.2
  • 9
    • 3042824625 scopus 로고    scopus 로고
    • Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
    • Fanin M, Fulizio L, Nascimbeni AC, et al. Molecular diagnosis in LGMD2A: Mutation analysis or protein testing? Hum Mut 2004; 24: 52-62
    • (2004) Hum Mut , vol.24 , pp. 52-62
    • Fanin, M.1    Fulizio, L.2    Nascimbeni, A.C.3
  • 10
    • 20144389936 scopus 로고    scopus 로고
    • Genotypephenotype correlations based on a large mutational survey on the calpain-3 gene
    • LGMD2A
    • Saenz A, Leturcq F, Cobo AM, et al. LGMD2A: Genotypephenotype correlations based on a large mutational survey on the calpain-3 gene. Brain 2005; 128: 732-742
    • (2005) Brain , vol.128 , pp. 732-742
    • Saenz, A.1    Leturcq, F.2    Cobo, A.M.3
  • 11
    • 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: 31-36
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3
  • 12
    • 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: 168-172
    • (2003) Nature , vol.423 , pp. 168-172
    • Bansal, D.1    Miyake, K.2    Vogel, S.S.3
  • 13
    • 0030477874 scopus 로고    scopus 로고
    • The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy
    • Mahjneh I, Passos-Bueno MR, Zatz M, et al. The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromuscul Disord 1996; 6: 483-490
    • (1996) Neuromuscul Disord , vol.6 , pp. 483-490
    • Mahjneh, I.1    Passos-Bueno, M.R.2    Zatz, M.3
  • 14
    • 0032855394 scopus 로고    scopus 로고
    • Making sense of the limb-girdle muscular dystrophies
    • Bushby KMD. Making sense of the limb-girdle muscular dystrophies. Brain 1999; 122: 1403-1420
    • (1999) Brain , vol.122 , pp. 1403-1420
    • Bushby, K.M.D.1
  • 15
    • 12244291885 scopus 로고    scopus 로고
    • Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
    • Campanaro S, Romualdi C, Fanin M, et al. Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet 2002; 26: 3283-3298
    • (2002) Hum Mol Genet , vol.26 , pp. 3283-3298
    • Campanaro, S.1    Romualdi, C.2    Fanin, M.3
  • 16
    • 0035853009 scopus 로고    scopus 로고
    • Calpain-3 and dysferlin protein screening in limb-girdle muscular dystrophy and myopathy patients
    • Fanin M, Pegoraro E, Matsuda-Asada C, et al. Calpain-3 and dysferlin protein screening in limb-girdle muscular dystrophy and myopathy patients. Neurology 2001; 56: 660-665
    • (2001) Neurology , vol.56 , pp. 660-665
    • Fanin, M.1    Pegoraro, E.2    Matsuda-Asada, C.3
  • 17
    • 6344234931 scopus 로고    scopus 로고
    • Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy
    • Kawabe K, Goto K, Nishino I, et al. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. Eur J Neurol 2004; 11: 657-661
    • (2004) Eur J Neurol , vol.11 , pp. 657-661
    • Kawabe, K.1    Goto, K.2    Nishino, I.3
  • 18
    • 0035075146 scopus 로고    scopus 로고
    • The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach
    • Pollitt C, Anderson LV, Pogue R, et al. The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach. Neuromuscul Disord 2001; 11: 287-296
    • (2001) Neuromuscul Disord , vol.11 , pp. 287-296
    • Pollitt, C.1    Anderson, L.V.2    Pogue, R.3
  • 19
    • 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 Mut 2005; 26: 165
    • (2005) Hum Mut , vol.26 , pp. 165
    • Nguyen, K.1    Bassez, G.2    Bernard, R.3
  • 20
    • 77949431909 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophies type 2A and 2B: Clinical and radiological aspects
    • Borsato C, Padoan R, Stramare R, et al. Limb-girdle muscular dystrophies type 2A and 2B: Clinical and radiological aspects. Basic Appl Myol 2006; 16: 17-25
    • (2006) Basic Appl Myol , vol.16 , pp. 17-25
    • Borsato, C.1    Padoan, R.2    Stramare, R.3
  • 21
    • 13244284886 scopus 로고    scopus 로고
    • Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
    • Cenacchi G, Fanin M, Badiali de Giorgi L, et al. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol 2005; 58: 190-195
    • (2005) J Clin Pathol , vol.58 , pp. 190-195
    • Cenacchi, G.1    Fanin, M.2    Badiali De Giorgi, L.3
  • 22
    • 30344435304 scopus 로고    scopus 로고
    • Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb girdle muscular dystrophy type 2A
    • Bartoli M, Roudaut C, Martin S, et al. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb girdle muscular dystrophy type 2A. Mol Ther 2006; 13: 250-259
    • (2006) Mol Ther , vol.13 , pp. 250-259
    • Bartoli, M.1    Roudaut, C.2    Martin, S.3
  • 23
    • 21244441929 scopus 로고    scopus 로고
    • Immune response to adeno-associated virus vectors
    • Zaiss AK, Muruve DA: Immune response to adeno-associated virus vectors. Curr Gene Ther 2005; 5: 323-331
    • (2005) Curr Gene Ther , vol.5 , pp. 323-331
    • Zaiss, A.K.1    Muruve, D.A.2
  • 24
    • 34247166670 scopus 로고    scopus 로고
    • AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alphasarcoglycan deficiency
    • Bartoli M, Poupiot J, Vulin A, et al. AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alphasarcoglycan deficiency. Gene Ther 2007; 14: 733-740
    • (2007) Gene Ther , vol.14 , pp. 733-740
    • Bartoli, M.1    Poupiot, J.2    Vulin, A.3
  • 25
    • 27144441053 scopus 로고    scopus 로고
    • Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy
    • Wenzel K, Zabojszcza J, Carl M, et al. Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. J Immunol 2005; 175: 6219-16125
    • (2005) J Immunol , vol.175 , pp. 6219-16125
    • Wenzel, K.1    Zabojszcza, J.2    Carl, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.