Pediatric Neurology
Volume 30, Issue 4 , Pages 291-294 , April 2004

Novel mutations in three patients with LGMD2C with phenotypic differences

  • Sascha Vermeer, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to:Dr. Vermeer; Department of Human Genetics; University Medical Centre Nijmegen; P.O. Box 9101; 6500 HB Nijmegen;The Netherlands.
    • Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Aad Verrips, MD, PhD

      Affiliations

    • Department of Pediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • Department of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Michèl A.A.P. Willemsen, MD, PhD

      Affiliations

    • Department of Pediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Henk J. ter Laak, PhD

      Affiliations

    • Department of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Ieke B. Ginjaar, PhD

      Affiliations

    • Center of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    • Department of Pathology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    • ,
  • Ben C.J. Hamel, MD, PhD

      Affiliations

    • Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands

Received 3 June 2003 ,Accepted 10 November 2003.

References 

  1. Ozawa E, Noghuchi S, Mizuno Y, Hagiwara Y, Yoshida M. From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy. Muscle Nerve 1998;4:421-38
  2. Van der Kooi AJ, Barth PG, Busch HFM, et al.  The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands. Brain. 1996;119:1471–1480
  3. Kloepfer HW, Talley C. Autosomal recessive inheritance of Duchenne-type muscular dystrophy. Ann Hum Genet. 1958;22:138–143
  4. Noghuci S, McNally EM, Ben Othomane K, et al.  Mutations in the dystrophin associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995;270:819–822
  5. Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature. 1989;338:259–262
  6. Campbell KP. Three muscular dystrophies (Loss of cytoskeleton-extracellular matrix linkage). Cell. 1995;80:675–679
  7. Bönneman CG, Wong J, Jones KJ, et al.  Primary γ-sarcoglycanopathy (LGMD2C) (Broadening of the mutational spectrum guided by the immunohistochemical profile). Neuromusc Disord. 2002;12:273–280
  8. Mizuno Y, Noguchi S, Yamamoto H, et al.  Selective defect of sarcoglycan complex in severe autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun. 1994;203:979–983
  9. Ozawa E, Yoshida M, Suzuki A, Mizuno Y, Hagiwara Y, Noguchi S. Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet. 1995;4:1711–1716
  10. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res. 1988;153:1215
  11. Ginjaar HB, Kooi van der AJ, Ceelie H, et al.  Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. J Neurol. 2000;247:524–529
  12. Pogue R, Anderson LVB, Pyle A, et al.  Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromusc Disord. 2001;11:80–87
  13. Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve. 1983;6:469–480
  14. McNally EM, Passos-Bueno MR, Bönneman CG, et al.  Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet. 1996;59:1040–1047

PII: S0887-8994(03)00580-0

doi: 10.1016/j.pediatrneurol.2003.11.006

Pediatric Neurology
Volume 30, Issue 4 , Pages 291-294 , April 2004

Article Tools

* Image Usage & Resolution