Progressive Muskeldystrophien vom Gliedergürteltyp

Literatur

• 1 Beckmann J S, Richard I, Hillaire D. et al . A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.  C R Acad Sci Paris. 1991;  312 141-148
• 2 Bönnemann C G, Passos-Bueno M R, McNally E M. et al . Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E).  Hum Mol Genet. 1996;  5 1953-61
• 3 Bushby K. Towards the classification of the autosomal recessive limb-girdle muscular dystrophies.  Neuromusc Disord. 1996;  6 439-441
• 4 Campbell K P. Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage.  Cell. 1995;  80 675-679
• 5 Couet J, Li S, Okamoto T. et al . Identification of peptide and protein ligands for the caveolin-scaffolding domain: Implications for the interaction of caveolin with caveolae-associated proteins.  J Biol Chem. 1997;  272 6525-6533
• 6 Driss A, Amouri R, Hamida C B. et al . A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.  Neuromusc Disord. 2000;  10 240-246
• 7 Ettinger A J, Feng G, Sanes J R. Ƹ-sarcoglycan, a broadly expressed homologue of the gene mutated in limb girdle muscular dystrophy 2D.  J Biol Chem. 1997;  272 32534-32538
• 8 Hoffman E P, Brown R H, Kunkel L M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus.  Cell. 1987;  51 919-928
• 9 Hughes M I, Hicks E M, Nevin N C, Patterson V H. The prevalence of inherited neuromuscular disease in Northern Ireland.  Neuromusc Disord. 1996;  6 69-73
• 10 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
• 11 Mahjneh I, Bushby K, Pizzi A, Bashir R, Marconi G. Limb-girdle muscular dystrophy: A follow-up study of 79 patients.  Acta Neurol Scand. 1996;  94 177-189
• 12 McNally E M, Passos-Bueno M R, Bönnemann C G. et al . Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.  Am J Hum Genet. 1996;  59 1040-1047
• 13 McNally E M, Ly C T, Kunkel L M. Human Ƹ-sarcoglycan is highly related to α-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.  FEBS lett. 1998;  422 27-32
• 14 Messina D N, Speer M C, Pericak-Vance M A, McNally E M. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.  Am J Hum Genet. 1997;  61 909-917
• 15 Minetti C, Sotgia F, Bruno C. et al . Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.  Nature Genet. 1998;  18 365-368
• 16 Moreira E S, Wiltshire T J, Faulkner G. et al . Limb-girdle muscular dystrophy Type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.  Nat Genet. 2000;  24 163-166
• 17 Ozawa E, Yoshida M, Suzuki A. et al . Dystrophin-associated proteins in muscular dystrophy.  Hum Mol Genet. 1995;  4 1711-1716
• 18 Passos-Bueno M R, Moreira E S, Vainzof M. et al . 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
• 19 Richard I, Broux O, Allamand V. et al . Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.  Cell. 1995;  81 27-40
• 20 Speer M C, Vance J M, Grubber J M. et al . Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.  Am J Hum Genet. 1999;  64 556-562
• 21 Straub V, Campbell K P. Muscular dystrophies and the dystrophin-glycoprotein complex.  Curr Op Neurol. 1997;  10 168-175
• 22 Vainzof M, Passos-Bueno M R, Canovas M. et al . The sarcoglycan complex in the six autosomal rezessive limb-girdle muscular dystrophies.  Hum Mol Genet. 1996;  5 1963-1969
• 23 Van der Kooi A J, Barth P G, Busch H F. et al . The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands.  Brain. 1996;  119 1471-1480
• 24 Van der Kooi A J, van Meegen M, Ledderhof T M. et al . Genetic localization of a newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.  Am J Hum Genet. 1997;  60 891-895
• 25 Weiler T, Greenberg C R, Zelinski T. et al . A gene for autosomal recessive limb girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another LGMD locus.  Am J Hum Genet. 1998;  63 140-147
• 26 Zatz M, Vainzof M, Passos-Bueno M R. Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes.  Curr Op Neurol. 2000;  13 511-517

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