• Banik NL, Shields DC, Ray S, Davis B, Matzelle D, Wilford G, Hogan EL. Role of calpain in spinal cord injury: effects of calpain and free radical inhibitors.Ann N Y Acad Sci 1998;844:131–37.

  Article PubMed CAS  Google Scholar 

• Barnes TM, Hodgkin J. Thetra-3 sex determination gene ofCaenorhabditis elegansencodes a member of the calpain regulatory protease family.EMBO J 1996;15:4477–84.

  PubMed CAS  Google Scholar 

• Bartoloni L, Horrigan SK, Viles KD, Gilchrist JM, Stajich JM, Vance JM, Yamaoka LH, Pericak-Vance MA, Westbrook CA, Speer MC. Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.Genomics. 1998;54:250–55.

  Article PubMed CAS  Google Scholar 

• Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira E de S, Zatz M, Beckmann JS, Bushby K. A gene related toCaenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.Nat Genet 1998;20:37–42.

  Article PubMed CAS  Google Scholar 

• Beckmann JS, Bushby KM. Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.Curr Opin Neurol 1996;9:389–93.

  Article PubMed CAS  Google Scholar 

• Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.Nat Genet 1994;8:323–27.

  Article PubMed CAS  Google Scholar 

• Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.Nat Genet 1999;21:285–88.

  Article PubMed CAS  Google Scholar 

• Bönnemann CG, McNally EM, Kunkel LM. Beyond dystrophin: current progress in the muscular dystrophies.Curr Opin Pediatr 1996;8:569–82.

  Article PubMed  Google Scholar 

• Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.Nat Genet 1995;11:266–73.

  Article PubMed  Google Scholar 

• Brais B, Bouchard JP, Xie YG, Rochefort DL, Chrétien N, Tome FM, Lafrenière RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codère F, Fardeau M, Rouleau GA. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.Nat Genet 1998;18:164–67.

  Article PubMed CAS  Google Scholar 

• Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvnen V, Johnson K, Harper PS, Shaw DJ, Housman DE. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member.Cell 1992;68:799–808.

  Article PubMed CAS  Google Scholar 

• Carafoli E, Molinari M. Calpain: a protease in search of a function?Biochem Biophys Res Commun 1998;247:193–03.

  Article PubMed CAS  Google Scholar 

• Cox GF, Kunkel LM. Dystrophies and heart disease.Curr Opin Cardiol 1997;12;329–43.

  Article PubMed CAS  Google Scholar 

• Denison SH, Orejas M, Arst HN Jr. Signalling of ambient pH inAspergillusinvolves a cysteine protease.J Biol Chem 1995;270:28519–22.

  Article PubMed CAS  Google Scholar 

• Emery AEH. The muscular dystrophies.BMJ 1998;317:991–95.

  Article PubMed CAS  Google Scholar 

• Futai E, Maeda T, Sorimachi H, Kitamoto K, Ishiura S, Suzuki K. The protease activity of a calpain-like cysteine protease inSaccharomyces cerevisiaeis required for alkaline adaptation and sporulation.Mol Gen Genet 1999;260:559–68.

  Article PubMed CAS  Google Scholar 

• Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Assignment of the tibial muscular dystrophy locus to chromosome 2q31.Am J Hum Genet 1998;62:620–26.

  Article PubMed CAS  Google Scholar 

• Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tomé FM, Schwartz K, Fardeau M, Tryggvason K, Guicheney P. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.Nat Genet 1995;11:216–18.

  Article PubMed CAS  Google Scholar 

• Herasse M, Ono Y, Fougerousse F, Kimura E, Stockholm D, Beley C, Montarras D, Pinset C, Sorimachi H, Suzuki K, Beckmann JS, Richard I. Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events.Mol Cell Biol 1999;19:4047–55.

  PubMed CAS  Google Scholar 

• Hoffman EP, Knudson CM, Campbell KP, Kunkel LM. Subcellular fractionation of dystrophin to the triads of skeletal muscle.Nature 1987;330:754–758.

  Article PubMed CAS  Google Scholar 

• Johnson GV, Guttmann RP Calpains: intact and active?Bioessays 1997;19:101–8.

  Article  Google Scholar 

• Kinbara K, Sorimachi H, Ishiura S, Suzuki K. Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.Arch Biochem Biophys 1997;342:99–107.

  Article PubMed CAS  Google Scholar 

• Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.Nature 1998;394:388–92.

  Article PubMed CAS  Google Scholar 

• Lim LE, Campbell KP. The sarcoglycan complex in limb-girdle muscular dystrophy.Curr Opin Neurol 1998;11:443–52.

  Article PubMed CAS  Google Scholar 

• Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, Tome FMS, Fardeau M, Jackson CE, Beckmann JS, Campbell KP. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4ql2.Nat Genet 1995;11:257–65.

  Article PubMed CAS  Google Scholar 

• Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb-girdle muscular dystrophy.Nat Genet 1998;20:31–36.

  Article PubMed CAS  Google Scholar 

• Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonté D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.Nat Genet 1998;18:365–68.

  Article PubMed CAS  Google Scholar 

• Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11–12.Am J Hum Genet 1997;61:151–59.

  Article PubMed CAS  Google Scholar 

• Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K. Ernenn deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.Nat Genet 1996;12:254–59.

  Article PubMed CAS  Google Scholar 

• Nigro V, de Sá Moreira E, 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;14:195–98.

  Article PubMed CAS  Google Scholar 

• Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Hamida MB, Nonaka I, Vance JM, Kunkel LM, Ozawa E. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.Science 1995;270:819–22.

  Article PubMed CAS  Google Scholar 

• Ono Y, Sorimachi H, Suzuki K. Structure and physiology of calpain, an enigmatic protease.Biochem Biophys Res Commun 1998a;245:289–94.

  Article PubMed CAS  Google Scholar 

• Ono Y, Shimada H, Sorimachi H, Richard I, Saido T C, Beckmann J S, Ishiura S, Suzuki K. Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A (LGMD2A).J Biol Chem 1998b;273:17073–78.

  Article PubMed CAS  Google Scholar 

• Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.Muscle Nerve 1998;21:421–38.

  Article PubMed CAS  Google Scholar 

• Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus.Nat Genet 1998;19:196–98.

  Article PubMed CAS  Google Scholar 

• Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, Hillaire D, Passos-Bueno M-R, Zatz M, Tischfield JA, Fardeau M, Jackson CE, Cohen D, Beckmann JS. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.Cell 1995;81:27–40.

  Article PubMed CAS  Google Scholar 

• Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen J E M A, Beley C, Cobo A-M, de Diego C, Eymard B, Gallano P, Ginjaar H B, Lasa A, Pollitt C, Topaloglu H, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, and Beckmann J S. Calpainopathy — A survey of mutations and polymorphisms.Am J Hum Genet 1999;64:1524–40.

  Article PubMed CAS  Google Scholar 

• Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FMS, Romero NB, Fardeau M, Beckmann JS, Kaplan J-C, Campbell KP. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.Cell 1994;78:625–33.

  Article PubMed CAS  Google Scholar 

• Sorimachi H, Imajoh-Ohmi S, Emori Y, Kawasaki H, Ohno S, Minami Y, Suzuki K. Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m-and μ-types. Specific expression of the mRNA in skeletal muscle.J Biol Chem 1989;264:20106–11.

  PubMed CAS  Google Scholar 

• Sorimachi H, Toyama-Sorimachi N, Saido TC, Kawasaki H, Sugita H, Miyasaka M, Arahata K, Ishiura S, Suzuki K. Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle.J Biol Chem 1993;268:10593–605.

  PubMed CAS  Google Scholar 

• Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K, Suzuki K. Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.J Biol Chem 1995;270:31158–62.

  Article PubMed CAS  Google Scholar 

• Sorimachi H, Ishiura S, Suzuki K. Structure and physiological function of calpains.Biochem J 1997;328:721–32.

  PubMed CAS  Google Scholar 

• Suzuki K, Sorimachi H. A novel aspect of calpain activation.FEBS Lett 1998;433:1–4.

  Article PubMed CAS  Google Scholar 

• Tsuchiya Y, Arahata K. Emery-Dreifuss syndrome.Curr Opin Neurol 1997;10:421–25.

  Article PubMed CAS  Google Scholar 

• van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome lq11–21.Am J Hum Genet 1997;60:891–95.

  PubMed  Google Scholar 

• Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.Am J Hum Genet 1998;63:140–47.

  Article PubMed CAS  Google Scholar 

• Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R,et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.Nat Genet 1992;2:26–30.

  Article PubMed CAS  Google Scholar 

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