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1
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0023614188
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Dystrophin: The protein product of the Duchenne muscular dystrophy locus
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Hoffman EP, Brown RH, Kunkel LM: Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1967, 51:919-928.
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Extent of shock-induced membrane leakage in human and mouse myotubes depends on dystrophin
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Menke A, Jockusch H: Extent of shock-induced membrane leakage in human and mouse myotubes depends on dystrophin. J Cell Sci 1995, 108:727-733. One of several recent papers directly addressing possible functions of dystrophin. The results support a membrane-stabilizing role for dystrophin.
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Menke, A.1
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Dystrophin, the protein that promotes membrane resistance
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0029051456
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X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: Concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes
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Azofeifa J, Voit T, Hubner C, Cremer M: X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995, 96:167-176.
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38249015655
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Neonatal screening for Duchenne/Becker muscular dystrophy: Reconsideration based on molecular diagnosis and potential therapeutics
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Naylor, E.W.1
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6
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0028889649
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Dystrophin localization at presynapse in rat retina revealed by immunoelectron microscopy
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Ueda H, Kobayashi T, Mitsui K, Tsurugi K, Tsukahara S, Ohno S: Dystrophin localization at presynapse in rat retina revealed by immunoelectron microscopy. Invest Ophthalmol Vis Sci 1995, 36:2318-2322.
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Enhanced sensitivity of hippocampal pyramidal neurons from mdx mice to hypoxia-induced loss of synaptic transmission
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Mehler MF, Haas KZ, Kessler JA, Stanton PK: Enhanced sensitivity of hippocampal pyramidal neurons from mdx mice to hypoxia-induced loss of synaptic transmission. Proc Natl Acad Sci U S A 1992, 89:2461-2465.
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Influence of dystrophin-gene mutation on mdx mouse behavior: I: Retention deficits at long delays in spontaneous alternation and bar pressing tasks
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Dubowitz V: Intellectual impairment in muscular dystrophy. Arch Dis Child 1965, 40:296-305.
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Hoffman EP, Kunkel LM, Angelini C, et al.: Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology 1989, 39:1011-1017.
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Hoffman, E.P.1
Kunkel, L.M.2
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11
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0024455248
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Familial X-linked myalgia and cramps
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Gospe SM, Lazaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH: Familial X-linked myalgia and cramps. Neurology 1989, 39:1277-1280.
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Fischbeck, K.H.6
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12
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0025130213
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Quadriceps myopathy: Forme fruste of Becker muscular dystrophy
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Sunohara N, Arahata K, Hoffman EP, et al.: Quadriceps myopathy: forme fruste of Becker muscular dystrophy. Ann Neurol 1990, 28:634-639.
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Ann Neurol
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Sunohara, N.1
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Becker muscular dystrophy: Detection of unusual disease courses by combined approach to dystrophin analysis
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Comi GP, Prelle A, Bresolin N, et al.: Clinical variability in Becker muscular dystrophy: genetic, biochemical, and immunohistochemical correlates. Brain 1994, 117:1-14.
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0027198775
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Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy
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Doriguzzi C, Palmucci L, Mongini T, Chiado-Piat L, Restagno G, Ferrone M: Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. J Neurol 1993, 240:269-271.
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Mongini, T.3
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Restagno, G.5
Ferrone, M.6
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16
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0028222944
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Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene
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Palmucci L, Doriguzzi C, Mongini T, Restagno G, Chiado-Piat L, Maniscalco M: Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene. Neurology 1994, 44:541-543.
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Maniscalco, M.6
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17
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Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy
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Palmucci L, Doriguzzi C, Mongini T, et al.: Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. J Neurol Sci 1992, 111:218-221.
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Palmucci, L.1
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Asymptomatic dystrophinopathy
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in press
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Morrone A, Zammarchi E, Hoop RC, Donati A, Servidei S, Hoffman EP: Asymptomatic dystrophinopathy. Am J Med Genet 1996, in press. This paper describes an extended family segregating a deletion mutation of the dystrophin gene, yet showing no clinical symptoms of a dystrophinopathy. The family was identified based on elevated serum transaminases during medical examination.
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Am J Med Genet
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Morrone, A.1
Zammarchi, E.2
Hoop, R.C.3
Donati, A.4
Servidei, S.5
Hoffman, E.P.6
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19
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0025745162
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Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies
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Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991, 49:54-67.
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Am J Hum Genet
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Beggs, A.H.1
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Snyder, J.R.3
Arahata, K.4
Specht, L.5
Shapiro, F.6
Angelini, C.7
Sugita, H.8
Kunkel, L.M.9
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20
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0026002798
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The frequency of patients having dystrophin abnormalities in a limb-girdle patient population
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Arikawa E, Hoffman EP, Kaido M, et al.: The frequency of patients having dystrophin abnormalities in a limb-girdle patient population. Neurology 1991, 41:1491-1496.
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Neurology
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Arikawa, E.1
Hoffman, E.P.2
Kaido, M.3
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21
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0025826689
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Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype
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Minetti C, Chang HW, Medori R, et al.: Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. Neurology 1991, 41:1288-1291.
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Minetti, C.1
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0026764256
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Dystrophinopathy in isolated cases of myopathy in females
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Hoffman EP, Arahata K, Minetti C, et al.: Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992, 42:967-975.
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Neurology
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Hoffman, E.P.1
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Minetti, C.3
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23
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0028824031
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Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion
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Malapert D, Recan D, Leturcq F, Degos JD, Gherardi RK: Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion. J Neurol Neurosurg Psychiatry 1995, 59:552-554.
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24
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0028904169
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Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin competent myonuclei
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Pegoraro E, Schimke RN, Garcia C, et al.: Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin competent myonuclei. Neurology 1995, 45:677-690. A complex study examining female patients heterozygous for dystrophin gene mutations to study the plasticity of muscle in pathologic situations.
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Pegoraro, E.1
Schimke, R.N.2
Garcia, C.3
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Dystrophinopathy in females: Paternal inheritance and genetic counseling
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Pegoraro E, Schimke RN, Arahata K, et al.: Dystrophinopathy in females: paternal inheritance and genetic counseling. Am J Hum Genet 1994, 54:989-1003.
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Pegoraro, E.1
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Arahata, K.3
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26
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0029900140
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Genetic counseling of isolated carriers of Duchenne muscular dystrophy
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Hoffman EP, Pegoraro E, Scacheri P, Bums RG, Taber JW, Weiss L, Spiro A, Blattner P: Genetic counseling of isolated carriers of Duchenne muscular dystrophy. Am J Med Genet 1996, 63:573-580.
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Am J Med Genet
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Hoffman, E.P.1
Pegoraro, E.2
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Bums, R.G.4
Taber, J.W.5
Weiss, L.6
Spiro, A.7
Blattner, P.8
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27
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0028146869
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Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
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Roberds SL, Leturcq F, Allamand V, et al.: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994, 78:625-633.
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0029319426
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Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
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Piccolo F, Roberds SL, Jeanpierre M, et al.: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet 1995, 10:243-245. A molecular and phenotypic study of a series of patients showing α-sarcoglycan gene mutations. Patients showed variable clinical severity, from childhood onset to adult onset.
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Nat Genet
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Piccolo, F.1
Roberds, S.L.2
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0029164775
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Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
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Ljunggren A, Duggan O, McNally E, et al.: Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995, 38:367-372.
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Ann Neurol
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Ljunggren, A.1
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30
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0028971219
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Beta-sarcogylcan (A3B) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
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Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan D, Angelini C, Hoffman EP, Ozawa E, Kunkel LM: Beta-sarcogylcan (A3B) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995, 11:266-273. One of a pair of papers (see Lim et al., Nat Genet 1995, 11:257-265) describing the first patients with mutations of the β-sarcoglycan gene. These patients showed a muscular dystrophy similar to Duchenne muscular dystrophy and showed a secondary deficiency of the other sarcoglycan proteins.
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Nat Genet
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Bonnemann, C.G.1
Modi, R.2
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Duggan, D.8
Angelini, C.9
Hoffman, E.P.10
Ozawa, E.11
Kunkel, L.M.12
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31
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0028971221
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β-Sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
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Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al.: β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995, 11:257-265. One of a pair of papers (see Bonnemann et al., Nat Genet 1995, 11:266-273) showing patients with β-sarcoglycan mutations.
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Nat Genet
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Lim, L.E.1
Duclos, F.2
Broux, O.3
Bourg, N.4
Sunada, Y.5
Allamand, V.6
Meyer, J.7
Richard, I.8
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32
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0028883973
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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
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Noguchi S, McNally EM, Ben Othmane K, et al.: Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995, 270:819-822. γ-Sarcoglycan is found to be the cause of the autosomal recessive muscular dystrophy prevalent in Tunisia.
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Science
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Noguchi, S.1
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33
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0029047106
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A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
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Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M: A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Mol Genet 1995, 4:1163-1167.
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Hum Mol Genet
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Bueno, M.R.1
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Akiyama, J.7
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34
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Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD 2F) and indicates that there is at least one more subtype of AR LGMD
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Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M: Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD 2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996, 5:815-820.
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35
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0029816797
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Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
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Nigro V, Moreira ES, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M: Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996, 13:195-198. This paper shows that all families in Brazil mapped to the 5q33 limb-girdle dystrophy locus share the same mutation of the δ-sarcoglycan gene.
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Nat Genet
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Nigro, V.1
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Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy
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McNally EM, Duggan DJ, Gorospe JR, Bonnemann C, Fanin M, Pegoraro, E, Lidov HGW, Nogushi S, Ozawa E, Finkel RS, et al.: Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet, 1996, 5:1841-1847. A series of patients with γ-sarcoglycan mutations are studied.
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Hum Mol Genet
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McNally, E.M.1
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Expression of laminin subunits in congenital muscular dystrophy
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Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V: Expression of laminin subunits in congenital muscular dystrophy. Neuromuscul Disord 1995, 5:307-316. A study of merosin-deficient congenital muscular dystrophy. The authors found MRI abnormalities in all patients studied, despite normal cognitive function.
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Sewry, C.A.1
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0006323955
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Congenital muscular dystrophy (CMD) with primary laminin α2 deficiency presenting as inflammatory myopathy
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Pegoraro E, Mancias P, Swerdlow SH, Raikow RB, Garcia C, Marks H, Crawford T, Carver V, DiCianno B, Hoffman EP: Congenital muscular dystrophy (CMD) with primary laminin α2 deficiency presenting as inflammatory myopathy. Ann Neurol 1996, 46:810-814. The authors describe a series of merosin-deficient congenital muscular dystrophy patients and show that a subset had been given an infantile polymyositis diagnosis due to inflammation in the biopsy specimen. Clear loss-of-function mutations of the merosin gene were identified in one patient with dramatic inflammation in his biopsy specimen.
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Ann Neurol
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Pegoraro, E.1
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Hoffman, E.P.10
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40
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Mutations in the laminin α2-chain (LAMA2) cause merosin-deficient congenital muscular dystrophy
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Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FMS, Schwartz K, Fardeau M, Tryggvason K, Guicheney P: Mutations in the laminin α2-chain (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995, 11:216-218. The first report of mutations in the large and complex merosin gene.
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Nat Genet
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Helbling-Leclerc, A.1
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Voit, T.1
Fardeau, M.2
Tome, F.M.3
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