Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review.

Abstract excerpt

BACKGROUND: Mutations in the alpha-sarcoglycan gene cause limb-girdle muscular dystrophy 2D, an autosomal recessive muscle wasting disorder primarily affecting the muscles of the shoulder and pelvic girdles. To date, no previous study has collated all known mutations in alpha-sarcoglycan and mapped these to the associated phenotypes. AIMS: To examine for correlations between mutation locations, or mutation type,...

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