Limb-girdle muscular dystrophy (original) (raw)

• Arikawa E, Hoffman EP, Kaido M, et al.: The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991, 41:1491–1496.
  PubMed CAS Google Scholar
• Wickland MP, Moore SA, Campbell KP, Mathews K, Wall C, Shilling C, King N, King W, Serrano C, Kissel JT, Fenichel GM, et al.: Molecular and clinical characterization of individuals with limb-girdle muscular dystrophy. American Academy of Neurology Meeting, Philadelphia; 2001.
• Fanin M, Pegoraro E, Matsuda-Asada C, Brown RH Jr, Angelini C: Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 2001, 56:660–665.
  PubMed CAS Google Scholar
• Mendell JR, Buzin CH, Feng J, et al.: Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001, 57:645–650.
  PubMed CAS Google Scholar
• Hauser MA, Horrigan SK, Salmikangas P, et al.: Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000, 9:2141–2147.
  Article PubMed CAS Google Scholar
• Sakaki M, Koike H, Takahashi N, et al.: Interaction between emerin and nuclear lamins. J Biochem (Tokyo). 2001, 129:321–327.
  CAS Google Scholar
• Kitaguchi T, Matsubara S, Sato M, et al.: A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromusc Disord 2001, 11:542–546.
  Article PubMed CAS Google Scholar
• Muchir A, Bonne G, van der Kooi AJ, et al.: Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000, 9:1453–1459. This paper reports the identification of mutations in the lamin A/C gene, previously reported to cause autosomal dominant Emery-Dreifuss muscular dystrophy, in patients with limb-girdle muscular dystrophy (LGMD). This introduced abnormalities of nuclear envelope proteins to the spectrum of LGMD etiologies.
  Article PubMed CAS Google Scholar
• Galbiati F, Razani B, Lisanti MP: Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001, 7:435–441.
  Article PubMed CAS Google Scholar
• McNally EM, de Sa Moreira E, Duggan DJ, et al.: Caveolin-3 in muscular dystrophy. Hum Mol Genet 1998, 7:871–877.
  Article PubMed CAS Google Scholar
• Herrmann R, Straub V, Blank M, et al.: Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 2000, 9:2335–2240.
  PubMed CAS Google Scholar
• Betz RC, Schoser BG, Kasper D, et al.: Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001, 28:218–219.
  Article PubMed CAS Google Scholar
• Baghdiguian S, Richard I, Martin M, et al.: Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. J Mol Med 2001, 79:254–261. The authors review the data that support the hypothesis that calpain-3 is involved in an antiapoptotic pathway, and that mutations in calpain-3 lead to apoptosis and impaired membrane repair. This introduces a new potential pathogenetic mechanism for limb-girdle muscular dystrophy. The authors suggest that this pathway may also be involved in inflammatory myopathies. This work may also suggest new therapeutic approaches.
  Article PubMed CAS Google Scholar
• Fardeau M, Hillaire D, Mignard C, et al.: Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996, 119(Pt 1):295–308.
  Google Scholar
• Richard I, Roudaut C, Saenz A, et al.: Calpainopathy—a survey of mutations and polymorphisms. Am J Hum Genet 1999, 64:1524–1540.
  Article PubMed CAS Google Scholar
• Talim B, Ognibene A, Mattioli E, et al.: Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. Neurology 2001, 56:692–693.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• Matsuda C, Aoki M, Hayashi YK, et al.: Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 1999, 53:1119–1122.
  PubMed CAS Google Scholar
• Bashir R, Britton S, Strachan T, et al.: A gene related to Caenorhabditis 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
• Bejaoui K, Hirabayashi K, Hentati F, et al.: Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 1995, 45:768–772.
  PubMed CAS Google Scholar
• Illa I, Serrano-Munuera C, Gallardo E, et al.: Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001, 49:130–134.
  Article PubMed CAS Google Scholar
• Weiler T, Greenberg CR, Nylen E, et al.: Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 1996, 59:872–878.
  PubMed CAS Google Scholar
• Weiler T, Bashir R, Anderson LV, et al.: Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 1999, 8:871–877.
  Article PubMed CAS Google Scholar
• Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, et al.: Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 2000, 55:1931–1933.
  PubMed CAS Google Scholar
• Piccolo F, Moore SA, Ford GC, Campbell KP: Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 2000, 48:902–912. The morphologic description of cytoplasmic accumulation of dysferlin in some forms of muscular dystrophy allowed the authors to hypothesize how dysferlin mutations lead to disease.
  Article PubMed CAS Google Scholar
• Matsuda C, Hayashi YK, Ogawa M, et al.: The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001, 10:1761–1766.
  Article PubMed CAS Google Scholar
• Selcen D, Stilling G, Engel AG: The earliest pathologic alterations in dysferlinopathy. Neurology 2001, 56:1472–1481.
  PubMed CAS Google Scholar
• Vainzof M, Passos-Bueno MR, Canovas M, et al.: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996, 5:1963–1969.
  Article PubMed CAS Google Scholar
• Hack AA, Lam MY, Cordier L, et al.: Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 2000, 113(Pt 14):2535–2544.
  PubMed CAS Google Scholar
• Politano L, Nigro V, Passamano L, et al.: Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromusc Disord 2001, 11:178–185.
  Article PubMed CAS Google Scholar
• Gnecchi-Ruscone T, Taylor J, Mercuri E, et al.: Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? Muscle Nerve 1999, 22:1549–1556.
  Article PubMed CAS Google Scholar
• Cohn RD, Durbeej M, Moore SA, et al.: Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex. J Clin Invest 2001, 107:R1-R7. The authors demonstrate coronary artery constrictions and associated areas of cardiac necrosis leading to fibrosis in mice deleted for either Β-or δ-sarcoglycan. The constrictions, necrosis, and cardiomyopathy were prevented by treatment with verapamil. This paper presents a potentially treatable component to the cardiomyopathy associated with some forms of sarcoglycanopathy.
  Article PubMed CAS Google Scholar
• Moreira ES, Vainzof M, Marie SK, et al.: The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet 1997, 61:151–159.
  Article PubMed CAS Google Scholar
• Moreira ES, Wiltshire TJ, 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.
  Article PubMed CAS Google Scholar
• Frosk P, Weiler T, Nylen E, et al.: Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002, 70:663–672. The limb-girdle muscular dystrophy 2H gene, TRIM32, is introduced in this paper. The authors suggest that TRIM32 is involved in the ubiquitin-proteasome pathway, and that muscular dystrophy is caused by the abnormal accumulation of a protein that is normally targeted for degredation.
  Article PubMed CAS Google Scholar
• Weiler T, Greenberg CR, 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 limb-girdle muscular dystrophy locus. Am J Hum Genet 1998, 63:140–147.
  Article PubMed CAS Google Scholar
• Michele DE, Barresi R, Kanagawa M, et al.: Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002, 418:417–422. This study provides biochemical evidence that the hypoglycosylation of α-dystroglycan and concomitant loss of laminin binding activity underlies the pathogenesis of muscular dystrophies caused by mutations in glycosyltransferase genes.
  Article PubMed CAS Google Scholar
• Brockington M, Blake DJ, Prandini P, et al.: Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001, 69:1198–1209.
  Article PubMed CAS Google Scholar
• Brockington M, Yuva Y, Prandini P, et al.: Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001, 10:2851–2859. This group recently showed that one form of congenital muscular dystrophy is caused by abnormal glycosylation of a dystroglycan through mutations in the FKRP gene. In this paper, they expand the spectrum of clinical phenotypes resulting from FKRP mutations to include patients with early-or late-onset limb-girdle muscular dystrophy. Glycosylation defects may be an important new mechanism in the muscular dystrophies.
  Article PubMed CAS Google Scholar
• Haravouri H, Vihola A, Straub V, et al.: Secondary calpain3 deficiency in 2q-linked muscular dystrophy. Titin is the candidate gene. Neurology 2001, 56:869–877.
  Google Scholar
• Hackman P, Vihola A, Haravouri H, et al.:Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002,71:492–500.
  Article PubMed CAS Google Scholar
• Gerull B, Gramlich M, Atherton J, et al.:Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002, 30:201–204.
  Article PubMed CAS Google Scholar
• Jones KJ, Morgan G, Johnston H, et al.: The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 2001, 38:649–657.
  Article PubMed CAS Google Scholar
• Mohire M, Tandan R, Fries T, et al.: Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). Neurology 1988, 38:573–580.
  PubMed CAS Google Scholar
• Higuchi I, Shiraishi T, Hashiguchi T, et al.: Frameshift mutation in the collagen VI gene causes Ullrich’s disease. Ann Neurol 2001, 50:261–265.
  Article PubMed CAS Google Scholar
• Jobsis GJ, Keizers H, Vreijling JP, et al.: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996, 14:113–115.
  Article PubMed CAS Google Scholar
• Camacho Vanegas O, Bertini E, Zhang RZ, et al.: Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 2001, 98:7516–7521.
  Article PubMed CAS Google Scholar
• Ho M, Gallardo E, McKenna-Yasek D, et al.: A novel, bloodbased diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy. Ann Neurol 2002, 51:129–133.
  Article PubMed Google Scholar
• Mora M, Cartegni L, Di Blasi C, et al.: X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol 1997, 42:249–253.
  Article PubMed CAS Google Scholar