title: Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.forename: Marina
authors.initials: M
authors.lastname: Fanin
authors.forename: Anna C
authors.initials: AC
authors.lastname: Nascimbeni
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
mesh_terms: D000293:Adolescent; D000368:Aged; D001706:Biopsy; D048429:Cell Size; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000473:pathology*; D012727:Sex Characteristics; D055815:Young Adult