Neuromuscular Disorders
Volume 22, Issue 1 , Pages 13-15 , January 2012

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

  • Margherita Milone

      Affiliations

    • Department of Neurology, Mayo Clinic, Rochester, MN, USA
    • Corresponding Author InformationCorresponding author. Address: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Tel.: +1 507 538 1037.
    • ,
  • Teerin Liewluck

      Affiliations

    • Department of Neurology, Mayo Clinic, Rochester, MN, USA
    • ,
  • Thomas L. Winder

      Affiliations

    • PreventionGenetics, Marshfield, WI, USA
    • ,
  • Paolo T. Pianosi

      Affiliations

    • Department of Pediatrics, Mayo Clinic, Rochester, MN, USA

Received 10 May 2011 ,Revised 1 July 2011 ,Accepted 8 July 2011.

References 

  1. Tsutsumi S, Kamata N, Vokes TJ, et al. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004;74:1255–1261
  2. Tsutsumi S, Inoue H, Sakamoto Y, Mizuta K, Kamata N, Itakura M. Molecular cloning and characterization of the murine gnathodiaphyseal dysplasia gene GDD1. Biochem Biophys Res Commun. 2005;331:1099–1106
  3. Mizuta K, Tsutsumi S, Inoue H, et al. Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyseal dysplasia. Biochem Biophys Res Commun. 2007;357:126–132
  4. Bolduc V, Marlow G, Boycott KM, et al. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010;86:213–221
  5. Mahjneh I, Jaiswal J, Lamminen A, et al. A new distal myopathy with mutation in anoctamin 5. Neuromuscul Disord. 2010;20:791–795
  6. Hicks D, Sarkozy A, Muelas N, et al. A founder mutation in anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain. 2011;134:171–182
  7. Spuler S, Carl M, Zabojszcza J, et al. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol. 2008;63:323–328
  8. Rosales XQ, Gastier-Foster JM, Lewis S, et al. Novel diagnostic features of dysferlinopathies. Muscle Nerve. 2010;42:14–21
  9. Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol. 2007;64:1176–1182
  10. Sharma A, Yu C, Leung C, et al. A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis. Arterioscler Thromb Vasc Biol. 2010;30:2196–2204

PII: S0960-8966(11)01309-5

doi: 10.1016/j.nmd.2011.07.005

Neuromuscular Disorders
Volume 22, Issue 1 , Pages 13-15 , January 2012

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