Gender difference in limb-girdle muscular dystrophy: A muscle fiber morphometric study in 101 patients

Marina Fanin, Anna C. Nascimbeni, Corrado Angelini

Research output: Contribution to journalArticlepeer-review


Aims: Limb girdle muscular dystrophies (LGMD), a genetically and clinically heterogeneous group of neuromuscular disorders, may show gender differences in the disease severity. We aimed to measure the extent of muscle fiber atrophy and evaluate possible gender differences at fiber level. Methods: We conducted a thorough morphometric analysis of muscle fiber size and fiber area in 101 muscles from patients with various forms of LGMD (43 LGMD2A, 30 LGMD2B, 21 LGMD2C-2D-2E, 7 LGMD1C) and 12 normal controls. Results: Reduced fiber size (atrophy) was pronounced in LGMD2A and LGMD2B, while LGMD1C showed a significant fiber hypertrophy. When we compared LGMD patients and controls of the same gender, males with LGMD2A and LGMD2B showed significantly higher fiber atrophy than control males, whereas female LGMD patients had similar values to female controls, suggesting a gender difference in muscle fiber atrophy. Discussion: Less recovery to disuse atrophy in men than in women has been attributed to the possibility that in women a smaller initial muscle size associated to endocrine factors could attenuate gender-specific muscle loss. The possibility that males with LGMD may be clinically more severely affected than females has been explored, but the mechanism remains elusive.

Original languageEnglish
Pages (from-to)179-185
Number of pages7
JournalClinical Neuropathology
Issue number3
Publication statusPublished - 2014


  • Fiber atrophy
  • Gender difference
  • LGMD
  • Limb girdle muscular dystrophy
  • Muscle fiber size
  • Muscle morphometry

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neurology


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