메뉴 건너뛰기




Volumn 18, Issue 4, 2014, Pages 253-256

Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the moroccan population

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MOROCCO; NEWBORN; PHENOTYPE; PREVALENCE; SGCG GENE; UMBILICAL CORD BLOOD; EPIDEMIOLOGY; FEMALE; GENE FREQUENCY; GENETICS; HETEROZYGOTE DETECTION; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION;

EID: 84897498787     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2013.0326     Document Type: Article
Times cited : (21)

References (16)
  • 1
    • 0030477156 scopus 로고    scopus 로고
    • Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies
    • Anderson LV (1996)) Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 6:443-446.
    • (1996) Neuromuscul Disord , vol.6 , pp. 443-446
    • Anderson, L.V.1
  • 2
    • 0029152259 scopus 로고
    • Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C)
    • Ben Othmane, K, Speer MC, Stauffer J, et al. (1995) Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). Am J Hum Genet 57:732-734.
    • (1995) Am J Hum Genet , vol.57 , pp. 732-734
    • Ben Othmane, K.1    Speer, M.C.2    Stauffer, J.3
  • 3
    • 0043280851 scopus 로고    scopus 로고
    • Novel sarcoglycan gene mutations in a large cohort of Italian patients
    • Boito C, Fanin M, Siciliano G, et al. (2003) Novel sarcoglycan gene mutations in a large cohort of Italian patients. J Med Genet 40:e67.
    • (2003) J Med Genet , vol.40
    • Boito, C.1    Fanin, M.2    Siciliano, G.3
  • 4
    • 0035996026 scopus 로고    scopus 로고
    • Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies
    • Bönnemann CG, Finkel RS (2002) Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies. Semin Pediatr Neurol 9:81-99.
    • (2002) Semin Pediatr Neurol , vol.9 , pp. 81-99
    • Bönnemann, C.G.1    Finkel, R.S.2
  • 5
    • 23044505486 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy in childhood
    • Bönnemann CG (2005) Limb-girdle muscular dystrophy in childhood. Pediatr Ann 34:569-577.
    • (2005) Pediatr Ann , vol.34 , pp. 569-577
    • Bönnemann, C.G.1
  • 6
    • 0029334512 scopus 로고
    • The limb-girdle muscular dystrophies: Proposal for a new nomenclature
    • Bushby KM, Beckmann JS (1995) The limb-girdle muscular dystrophies: proposal for a new nomenclature. Neuromuscul Disord 5:337e43.
    • (1995) Neuromuscul Disord , vol.5
    • Bushby, K.M.1    Beckmann, J.S.2
  • 7
    • 84897543494 scopus 로고    scopus 로고
    • La gamma-sarcoglycanopathie par la mutation del521T au Maroc. à propos de 20 cas
    • El Kerch F, Sbiti A, Azibi K, et al. (2001) La gamma-sarcoglycanopathie par la mutation del521T au Maroc. à propos de 20 cas. Rev Magh Pédiat 11:189-192.
    • (2001) Rev Magh Pédiat , vol.11 , pp. 189-192
    • El Kerch, F.1    Sbiti, A.2    Azibi, K.3
  • 8
    • 0028354947 scopus 로고
    • Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa
    • El Kerch F, Sefiani A, Azibi K, et al. (1994) Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa. J Med Genet 31:342-343.
    • (1994) J Med Genet , vol.31 , pp. 342-343
    • El Kerch, F.1    Sefiani, A.2    Azibi, K.3
  • 9
    • 70349242006 scopus 로고    scopus 로고
    • Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders
    • Prévalence des maladies rares: Données bibliographiques
    • Jaouad IC, Elalaoui SC, Sbiti A, et al. (2009) Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders. J Biosoc Sci 41:575-581. Prévalence des maladies rares: Données bibliographiques.
    • (2009) J Biosoc Sci , vol.41 , pp. 575-581
    • Jaouad, I.C.1    Elalaoui, S.C.2    Sbiti, A.3
  • 10
    • 19244363787 scopus 로고    scopus 로고
    • Mild and severe muscular dystrophy caused by a single gammasarcoglycan mutation
    • McNally EM, Passos-Bueno MR, Bönnemann CG, et al. (1996) Mild and severe muscular dystrophy caused by a single gammasarcoglycan mutation. Am J Hum Genet 59:1040-1047.
    • (1996) Am J Hum Genet , vol.59 , pp. 1040-1047
    • McNally, E.M.1    Passos-Bueno, M.R.2    Bönnemann, C.G.3
  • 11
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein y-sarcoglycan in chromosome 13 muscular dystrophy
    • Noguchi S, McNally EM, Ben Othmane K, et al. (1995) Mutations in the dystrophin-associated protein y-sarcoglycan in chromosome 13 muscular dystrophy. Science 270:819-822.
    • (1995) Science , vol.270 , pp. 819-822
    • Noguchi, S.1    McNally, E.M.2    Ben Othmane, K.3
  • 12
    • 0031943778 scopus 로고    scopus 로고
    • From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy
    • Ozawa E, Noguchi S, Mizuno Y, et al. (1998) From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 21:421-438.
    • (1998) Muscle Nerve , vol.21 , pp. 421-438
    • Ozawa, E.1    Noguchi, S.2    Mizuno, Y.3
  • 13
    • 84555197004 scopus 로고    scopus 로고
    • Childhood onset of limb-girdle muscular dystrophy
    • Rosales XQ, Tsao CY (2012) Childhood onset of limb-girdle muscular dystrophy. Pediatr Neurol 46:13-23.
    • (2012) Pediatr Neurol , vol.46 , pp. 13-23
    • Rosales, X.Q.1    Tsao, C.Y.2
  • 14
    • 0000163138 scopus 로고
    • Isolation of DNA from mammalian cells
    • Sambrook J, Fritsch EF, Maniatis T (eds) New York: Cold Spring Harbor Laboratory Press
    • Sambrook J, Fritsch EF, Maniatis T (1989) Isolation of DNA from mammalian cells. In: Sambrook J, Fritsch EF, Maniatis T (eds). Molecular Cloning: A Laboratory Manual. New York: Cold Spring Harbor Laboratory Press: pp 917-919.
    • (1989) Molecular Cloning: A Laboratory Manual , pp. 917-919
    • Sambrook, J.1    Fritsch, E.F.2    Maniatis, T.3
  • 15
    • 45749149164 scopus 로고    scopus 로고
    • Revised spectrum of mutations in sarcoglycanopathies
    • Trabelsi M, Kavian N, Daoud F, et al. (2008) Revised spectrum of mutations in sarcoglycanopathies. Eur JHumGenet 16:793-803.
    • (2008) Eur JHumGenet , vol.16 , pp. 793-803
    • Trabelsi, M.1    Kavian, N.2    Daoud, F.3
  • 16
    • 0000929750 scopus 로고
    • Systems of mating
    • Wright S (1921) Systems of mating. Genetics 6:111-178.
    • (1921) Genetics , vol.6 , pp. 111-178
    • Wright, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.