title: Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue.
abstract: BACKGROUND
  Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein. Awareness of the variants and their relative frequency is essential for accurate diagnosis.
  
  
  OBJECTIVE
  To study the spectrum of morphologic changes in immunohistochemically proven cases of dysferlinopathies, to correlate the findings with clinical phenotype and durations of illness and determine the frequency.
  
  
  METHODS
  Dysferlinopathies seen over a period of 2 years at a tertiary neurological center were analyzed.
  
  
  RESULTS
  Clinically, majority had Miyoshi phenotype (46.6%) with distal involvement and LGMD phenotype (40%) with proximal muscle involvement. In addition, a proximo-distal and tibial muscle phenotype was encountered. Morphologically, rimmed vacuoles were noted in the Miyoshi phenotype. The presence of ragged red fibers, lobulated fibers and inflammation had no preference to a particular phenotype. Significant atrophy and lobulated fibers were noted in patients with longer duration of illness.
  
  
  CONCLUSIONS
  Dysferlinopathy was the second most common identifiable cause (21%) of LGMD next to sarcoglycanopathies (27%).
authors.affiliation: Department of Neuropathology, National Institute of Mental Health & Neurosciences, Bangalore, Karnataka, India. gayathrin12@rediffmail.com
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.forename: R
authors.initials: R
authors.lastname: Alefia
authors.forename: A
authors.initials: A
authors.lastname: Nalini
authors.forename: T C
authors.initials: TC
authors.lastname: Yasha
authors.forename: M
authors.initials: M
authors.lastname: Anita
authors.forename: Vani
authors.initials: V
authors.lastname: Santosh
authors.forename: S K
authors.initials: SK
authors.lastname: Shankar
mesh_terms: D000293:Adolescent; D000328:Adult; D000073939:Dysferlin; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000032:analysis; D008853:Microscopy; D008875:Middle Aged; D032342:Muscle Cells / Q000648:ultrastructure; D018657:Muscle Fibers, Slow-Twitch / Q000648:ultrastructure; D009124:Muscle Proteins / Q000032:analysis; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000473:pathology; D014617:Vacuoles / Q000648:ultrastructure; D055815:Young Adult
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins