Late onset in dysferlinopathy widens the clinical spectrum

Neuromuscul Disord. 2008 Apr;18(4):288-90. doi: 10.1016/j.nmd.2008.01.004.


LGMD2B, Miyoshi Myopathy and Distal Anterior Compartment Myopathy are caused by mutations in the dysferlin gene (DYSF) leading to progressive muscular weakness and wasting with onset usually within the second or third decade of life. We here present a patient with disease onset at 73 years. The presenting symptom was exercise-induced stiffness of the trunk and proximal leg muscles without major progression over a period of 12 years. Gastrocnemius muscle biopsy revealed dystrophic morphology and biochemical depletion of dysferlin, while sequence analysis revealed compound heterozygous splicing mutations of the dysferlin gene. This case represents the eldest age of onset of dysferlinopathy reported so far and widens the clinical spectrum of this disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • DNA Mutational Analysis
  • Dysferlin
  • Female
  • Humans
  • Membrane Proteins / genetics*
  • Muscle Proteins / genetics*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Muscular Dystrophies, Limb-Girdle / pathology
  • Muscular Dystrophies, Limb-Girdle / physiopathology
  • Mutation*


  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins