Abstract
The mutation in the siblings was a homozygous donor splice site mutation, c.621 + 1G > T. Analysis of the cDNA showed two distinct ofmRNAspecies: (1) deletionof thewholeof exon3, and (2) 1;bpdeletion of the terminal portion of exon 3. In the unrelated patient, there wasahomozygousdeletionc.570_572TTT > TTof thebeta sarcoglycan gene. Two other unrelated patients had the same homozygous missense mutation, c.696C > G (p.Cys232Trp) in the alpha sarcoglycan gene that was not seen in a series of 200 normal chromosomes and published databases. Beta and alpha sarcoglycanopathy appear to be more common than other forms of sarcoglycanopathies in Malaysia. Out of 87 cases of LGMD in our database, they comprise about 5.7%.
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