Abstract | BACKGROUND: 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:
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Authors | N Gayathri, R Alefia, A Nalini, T C Yasha, M Anita, Vani Santosh, S K Shankar |
Journal | Indian journal of pathology & microbiology
(Indian J Pathol Microbiol)
2011 Apr-Jun
Vol. 54
Issue 2
Pg. 350-4
ISSN: 0974-5130 [Electronic] India |
PMID | 21623088
(Publication Type: Journal Article)
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Chemical References |
- DYSF protein, human
- Dysferlin
- Membrane Proteins
- Muscle Proteins
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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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