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Sarcoglycanopathies: a report of 25 cases.

Authors: S. V. Khadilkar; R. K. Singh; S. M. Katrak;

Sarcoglycanopathies: a report of 25 cases.

Abstract

Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip abduction sign in 64% of cases. Distal muscle involvement in lower limbs was seen in 92% of cases, but was mild and late in the course of the disease. 44% patients had winging of scapulae. Immunocytochemistry showed multiple sarcoglycan deficiencies in 84% patients. Primary beta and delta sarcoglycanopathy was seen in the remaining 16% cases. Secondary dystrophin reduction was seen in 44% patients and correlated with beta sarcoglycan deficiency but not with functional disability.

Country
Canada
Keywords

Adult, Male, Membrane Glycoproteins, Neurology, Adolescent, Humans, Female, Prospective Studies, Child, Muscular Dystrophies

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Found an issue? Give us feedback
citations
The total number of citations received by all articles of the researcher of interest.
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
17
Average
Top 10%
Average
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