Abstract | INTRODUCTION: OBJECTIVE: METHODS: To identify phenotypic differences among patients with different types of sarcoglycanopathies, a questionnaire was used and the muscle strength and range of motion of nine joints in 45 patients recruited from the Department of Neurology--HC-FMUSP (Clinics Hospital of the Faculty of Medicine of the University of São Paulo) were evaluated. The findings obtained from these analyses were compared with the results of the immunohistochemical findings. RESULTS: CONCLUSION: The clinical differences observed in this study, which were associated with the immunohistochemical findings, may help to prioritize the mutational investigation of sarcoglycan genes.
|
Authors | Ana F B Ferreira, Mary S Carvalho, Maria Bernadete D Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie |
Journal | Clinics (Sao Paulo, Brazil)
(Clinics (Sao Paulo))
Vol. 66
Issue 10
Pg. 1713-9
( 2011)
ISSN: 1980-5322 [Electronic] United States |
PMID | 22012042
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Topics |
- Adolescent
- Adult
- Age Factors
- Analysis of Variance
- Biopsy
- Cohort Studies
- Female
- Humans
- Immunohistochemistry
- Limb Deformities, Congenital
(metabolism, pathology)
- Male
- Middle Aged
- Muscle Weakness
(physiopathology)
- Muscular Dystrophies, Limb-Girdle
(metabolism, pathology)
- Phenotype
- Sarcoglycanopathies
(classification, metabolism, pathology)
- Staining and Labeling
- Statistics, Nonparametric
- Young Adult
|