메뉴 건너뛰기




Volumn 61, Issue 4, 2013, Pages 371-374

GNE myopathy in India

Author keywords

c. 2086G > A (p.Val696Met); GNE myopathy; mutation analysis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL VACUOLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONSANGUINITY; DISABLED PERSON; DISEASE DURATION; DISTAL MYOPATHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GNE GENE; GNE MYOPATHY; HAMSTRING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INDIA; LEG MUSCLE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NONSENSE MUTATION; ONSET AGE; PERONEUS MUSCLE; QUADRICEPS FEMORIS MUSCLE; SHOULDER GIRDLE; THIGH; TIBIALIS ANTERIOR MUSCLE;

EID: 84884622364     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.117609     Document Type: Article
Times cited : (29)

References (23)
  • 1
    • 0021924034 scopus 로고
    • Autosomal recessive distal muscular dystrophy: A comparative study with distal myopathy with rimmed vacuole formation
    • Nonaka I, Sunohara N, Satoyoshi E, Terasawa K, Yonemoto K. Autosomal recessive distal muscular dystrophy: A comparative study with distal myopathy with rimmed vacuole formation. Ann Neurol 1985;17:51-9.
    • (1985) Ann Neurol , vol.17 , pp. 51-59
    • Nonaka, I.1    Sunohara, N.2    Satoyoshi, E.3    Terasawa, K.4    Yonemoto, K.5
  • 2
    • 0021320516 scopus 로고
    • Rimmed vacuole myopathy sparing the quadriceps. A unique disorder in Iranian Jews
    • Argov Z, Yarom R. Rimmed vacuole myopathy sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 1984;64:33-43.
    • (1984) J Neurol Sci , vol.64 , pp. 33-43
    • Argov, Z.1    Yarom, R.2
  • 3
    • 0037058765 scopus 로고    scopus 로고
    • Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
    • Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 2002;59:1689-93.
    • (2002) Neurology , vol.59 , pp. 1689-1693
    • Nishino, I.1    Noguchi, S.2    Murayama, K.3    Driss, A.4    Sugie, K.5    Oya, Y.6
  • 4
    • 16344367073 scopus 로고    scopus 로고
    • Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy
    • Nonaka I, Noguchi S, Nishino I. Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. Curr Neurol Neurosci Rep 2005;5:61-5.
    • (2005) Curr Neurol Neurosci Rep , vol.5 , pp. 61-65
    • Nonaka, I.1    Noguchi, S.2    Nishino, I.3
  • 5
    • 0036791916 scopus 로고    scopus 로고
    • A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
    • Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, et al. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees. Ann Neurol 2002;52:516-9.
    • (2002) Ann Neurol , vol.52 , pp. 516-519
    • Arai, A.1    Tanaka, K.2    Ikeuchi, T.3    Igarashi, S.4    Kobayashi, H.5    Asaka, T.6
  • 6
  • 7
    • 17944366749 scopus 로고    scopus 로고
    • The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
    • Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29:83-7.
    • (2001) Nat Genet , vol.29 , pp. 83-87
    • Eisenberg, I.1    Avidan, N.2    Potikha, T.3    Hochner, H.4    Chen, M.5    Olender, T.6
  • 8
    • 12144287262 scopus 로고    scopus 로고
    • Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
    • Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, et al. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 2004;279:11402-7.
    • (2004) J Biol Chem , vol.279 , pp. 11402-11407
    • Noguchi, S.1    Keira, Y.2    Murayama, K.3    Ogawa, M.4    Fujita, M.5    Kawahara, G.6
  • 9
    • 84866018938 scopus 로고    scopus 로고
    • Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations
    • Park YE, Kim HS, Choi ES, Shin JH, Kim SY, Son EH, et al. Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations. J Neurol Sci 2012;321:77-81.
    • (2012) J Neurol Sci , vol.321 , pp. 77-81
    • Park, Y.E.1    Kim, H.S.2    Choi, E.S.3    Shin, J.H.4    Kim, S.Y.5    Son, E.H.6
  • 10
    • 77953805958 scopus 로고    scopus 로고
    • Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases
    • Nalini A, Gayathri N, Dawn R. Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases. Neurol India 2010;58:235-41.
    • (2010) Neurol India , vol.58 , pp. 235-241
    • Nalini, A.1    Gayathri, N.2    Dawn, R.3
  • 11
    • 0019481203 scopus 로고
    • Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
    • Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-55.
    • (1981) J Neurol Sci , vol.51 , pp. 141-155
    • Nonaka, I.1    Sunohara, N.2    Ishiura, S.3    Satoyoshi, E.4
  • 12
    • 0023321661 scopus 로고
    • Rimmed vacuolar distal myopathy: A clinical, electrophysiological, histopathological and computed tomographic study of seven cases
    • Mizusawa H, Kurisaki H, Takatsu M, Inoue K, Mannen T, Toyokura Y, et al. Rimmed vacuolar distal myopathy: A clinical, electrophysiological, histopathological and computed tomographic study of seven cases. J Neurol 1987;234:129-36.
    • (1987) J Neurol , vol.234 , pp. 129-136
    • Mizusawa, H.1    Kurisaki, H.2    Takatsu, M.3    Inoue, K.4    Mannen, T.5    Toyokura, Y.6
  • 13
    • 0038460809 scopus 로고    scopus 로고
    • Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy
    • Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, et al. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy. Muscle Nerve 2003;28:113-7.
    • (2003) Muscle Nerve , vol.28 , pp. 113-117
    • Del Bo, R.1    Baron, P.2    Prelle, A.3    Serafini, M.4    Moggio, M.5    Fonzo, A.D.6
  • 16
    • 0027407477 scopus 로고
    • Vacuolar myopathy sparing the quadriceps
    • Sadeh M, Gadoth N, Hadar H, Ben-David E. Vacuolar myopathy sparing the quadriceps. Brain 1993;116:217-32.
    • (1993) Brain , vol.116 , pp. 217-232
    • Sadeh, M.1    Gadoth, N.2    Hadar, H.3    Ben-David, E.4
  • 17
    • 0027714853 scopus 로고
    • New advances in inclusion-body myositis
    • Askanas V, Engel WK. New advances in inclusion-body myositis. Curr Opin Rheumatol 1993;5:732-41.
    • (1993) Curr Opin Rheumatol , vol.5 , pp. 732-741
    • Askanas, V.1    Engel, W.K.2
  • 18
    • 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;7:486-96.
    • (1995) Curr Opin Rheumatol , vol.7 , pp. 486-496
    • Askanas, V.1    Engel, W.K.2
  • 21
    • 84861639380 scopus 로고    scopus 로고
    • Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations
    • Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, Tanaka K, et al. Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. J Neurol Sci 2012;318:100-5.
    • (2012) J Neurol Sci , vol.318 , pp. 100-105
    • Mori-Yoshimura, M.1    Monma, K.2    Suzuki, N.3    Aoki, M.4    Kumamoto, T.5    Tanaka, K.6
  • 23
    • 77949894342 scopus 로고    scopus 로고
    • Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria
    • Kurochkina N, Yardeni T, Huizing M. Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. Glycobiology 2010;20:322-37.
    • (2010) Glycobiology , vol.20 , pp. 322-337
    • Kurochkina, N.1    Yardeni, T.2    Huizing, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.