Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations
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چکیده
منابع مشابه
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
The limb-girdle muscular dystrophies (LGMDs) are genetically determined progressive disorders clinically defined by the primary involvement of the pelvic and shoulder girdle musculature. Among autosomal recessive LGMDs (LGMD 2), sarcoglycanopathies (LGMD 2C-2F) represent a subgroup caused by mutations in one of the genes that encode γ-, α-, β-, and δ-sarcoglycans (SGs), respectively. The SGs ar...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.2.e12