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[Sarcoglycanopathy].

Authors: E, Ozawa;

[Sarcoglycanopathy].

Abstract

Sarcoglycanopathy is a group of four autosomal recessive muscular dystrophies whose symptoms are similar to Duchenne muscular dystrophy (DMD). These dystrophies are caused by mutations on anyone of the genes encoding four subunits of sarcoglycan complex which are transmembranous and dystrophin associated proteins. When the protein product of the mutated gene is absent, entire sarcoglycan complex is absent or greatly reduced in amount. This further gives rise to the weak connection between dystrophin and dystroglycan complex. These cause Duchenne-like phenotype. In DMD, dystrophin is absent and sarcoglycan complex is greatly reduced. These similarities in molecular defects in these diseases may cause the similarity in symptoms.

Keywords

Membrane Glycoproteins, Humans, Muscular Dystrophies

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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!
0
Average
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