Article
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2011
Babameto-Laku A, Tabaku M, Tashko V, Cikuli M, Mokini V
Abstract excerpt
Limb-girdle muscular dystrophy type 2D (LGMD2D) is caused by autosomal recessive mutations in the alpha-sarcoglycan gene. The clinical, biochemical, histological, imunohistochemical and molecular genetic data in 2 Albanian siblings with LGMD2D (adhalinopathy or alpha-sarcoglycanopathy) are presented and the resemblance with Duchenne muscular dystrophy (DMD) is discussed. Both siblings had very high level of CK...
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