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Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue.

AbstractBACKGROUND:
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.
AIM:
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.
MATERIALS AND 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%).
AuthorsN Gayathri, R Alefia, A Nalini, T C Yasha, M Anita, Vani Santosh, S K Shankar
JournalIndian journal of pathology & microbiology (Indian J Pathol Microbiol) 2011 Apr-Jun Vol. 54 Issue 2 Pg. 350-4 ISSN: 0974-5130 [Electronic] India
PMID21623088 (Publication Type: Journal Article)
Chemical References
  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins
Topics
  • Adolescent
  • Adult
  • Dysferlin
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Proteins (analysis)
  • Microscopy
  • Middle Aged
  • Muscle Cells (ultrastructure)
  • Muscle Fibers, Slow-Twitch (ultrastructure)
  • Muscle Proteins (analysis)
  • Muscle, Skeletal (pathology)
  • Muscular Dystrophies, Limb-Girdle (pathology)
  • Vacuoles (ultrastructure)
  • Young Adult

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