A foundation for limb-girdle muscular dystrophy

Recent work suggests that the molecular basis for one form of limb-girdle muscular dystrophy is neither a single gene nor many genes: Enter the digenic model.

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References

  1. 1

    Richard, I. et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81, 1–20 (1995).

  2. 2

    Bushby, K.M.D. & Beckmann, J.S. Report of the 30th and 31st ENMC International workshop on the limb-girdle muscular dystrophies-proposal for a new nomenclature. Neuromusc Disord. (in the press).

  3. 3

    Bushby, K.M.D. Limb-girdle muscular dystrophy. in Diagnostic Criteria for Neummuscular Disorders (ed. Emery, A.E.H.) 25–31 (ENMC, Baarn, The Netherlands,1994).

  4. 4

    Speer, M.C. et al. Confirmation of genetic heterogeneity in Limb-Girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q. Am J hum Genet. 50, 1211–1217 (1992).

  5. 5

    Emery, A.E.H. Population frequencies of inherited neuromuscular diseases: A world survey. Neuramusc Disord. 1, 19–29 (1991).

  6. 6

    Beckmann, J.S. et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. CR Acad Sci Paris 312, 141–146 (1991).

  7. 7

    Young, K. et al. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomis 13, 1370–1371 (1992).

  8. 8

    Passos-Bueno, M.R. et al. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. J med Genet. 30, 385–387 (1993).

  9. 9

    Bashir, R. et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum molec Genet. 3, 455–457 (1994).

  10. 10

    Allamand, V. et al. Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1 cM 15ql5 1-ql5. 3 interval. Am J hum Genet (in the press).

  11. 11

    Fougerousse, F. Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy. Hum molec Genet 3, 285–293 (1994).

  12. 12

    Kajiwara, K., Berson, E.L. & Dryja, T.P. Digenic retinitis pigmentosa due to mutations at the unlinked pripherin/RDS and ROM1 loci. Science 264, 1604–1608.

  13. 13

    Sorimachi, H. Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and m-types. J biol Chem. 264, 20106–20111 (1989).

  14. 14

    Hirai, S., Kawasaki, H., Yaniv, M. & Suzuki, K. Degradation of transcription factors, c-Jun and c-Fos, by calpain. FEBS 287, 57–61 (1991).

  15. 15

    Imajoh, S., Kawasaki, H. & suzuki, K. Limited autolysis of calcium-activated neutral protease (CANP): Reduction of the Ca2+-requirement is due to the NH2-terminal processing of the large subunit. J Biochem. 100, 633–642 (1986).

  16. 16

    Clapham, D.E. Calcium signaling. Cell 80, 259–268 (1995).

  17. 17

    Sorimachi, H. et al. Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle. J. biol Chem. 268, 10593–10605 (1993).

  18. 18

    Sakihama, T. et al. A putative Ca2+-binding protein: Structure of the light subunit of porcine calpain elucidated by molecular cloning and protein sequence analysis. Proc natn Acad Sci U S A. 82, 6075–6079 (1985)

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