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Related Experiment Videos

Novel mutations in three patients with LGMD2C with phenotypic differences.

Sascha Vermeer1, Aad Verrips, Michèl A A P Willemsen

  • 1Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

Pediatric Neurology
|April 17, 2004
PubMed
Summary

Limb-girdle muscular dystrophy type 2C, caused by gamma-sarcoglycan gene mutations, presents in childhood with progressive muscle weakness. This study identified two novel mutations and observed phenotypic variability in affected siblings.

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Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Limb-girdle muscular dystrophy type 2C (LGMD2C) is an inherited neuromuscular disorder.
  • It results from mutations in the gamma-sarcoglycan gene, leading to progressive muscle degeneration.
  • Clinical presentation can mimic other dystrophinopathies, complicating diagnosis.

Purpose of the Study:

  • To describe the clinical, histological, and immunohistochemical features of three children with LGMD2C.
  • To identify the genetic mutations responsible for LGMD2C in affected families.
  • To investigate phenotypic variability in siblings with LGMD2C.

Main Methods:

  • Clinical examination and assessment of disease progression.
  • Serum creatine kinase level measurement.

Related Experiment Videos

  • Muscle biopsy with immunohistochemistry for sarcoglycan expression.
  • DNA sequencing to identify mutations in the gamma-sarcoglycan gene.

    • Main Results:

    • All patients exhibited limb-girdle weakness, calf hypertrophy, and elevated creatine kinase levels.
    • Immunohistochemistry revealed reduced expression of alpha-, beta-, gamma-, and delta-sarcoglycans.
    • Genetic analysis identified a novel splice site mutation (IVS5+2T>C) in the Turkish family and a novel nonsense mutation (93G>A;Trp31X) in the Moroccan family.
    • Phenotypic differences were noted between two brothers with LGMD2C.

    Conclusions:

    • LGMD2C is characterized by childhood onset, progressive muscle weakness, and specific immunohistochemical findings.
    • Novel mutations in the gamma-sarcoglycan gene cause LGMD2C.
    • Phenotypic variability can occur even in siblings with the same condition.