BIN1 mutations are a rare cause of dominant and recessive centronuclear myopathies. We have identified a founder BIN1 c.700C > T (p.C234R) mutation in the gypsy Spanish population present in 13 patients with autosomal recessive centronuclear myopathy belonging to 8 families from Andalucía (10p), Valencia (2p) and Cataluña (1p). Eleven patients are homozygous for the BIN1 c.700C > T mutation and two of them have compound heterozygous mutations with a BIN1 c.433C > T. The haplotype analysis confirmed a common origin for the founder mutation in this population group.

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