[HTML][HTML] Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy
G Acsadi, SA Moore, A Chéron, O Delalande… - Journal of Biological …, 2012 - ASBMB
Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker
muscular dystrophy, but a genotype/phenotype correlation is difficult to establish. Amino acid
substitutions may disrupt binding capacities of dystrophin and have a major impact on the
functionality of this protein. We have identified two brothers (ages 8 and 10 years) with very
mild proximal weakness, recurrent abdominal pain, and moderately elevated serum creatine
kinase levels. Gene sequencing revealed a novel mutation in exon 11 of the dystrophin …
muscular dystrophy, but a genotype/phenotype correlation is difficult to establish. Amino acid
substitutions may disrupt binding capacities of dystrophin and have a major impact on the
functionality of this protein. We have identified two brothers (ages 8 and 10 years) with very
mild proximal weakness, recurrent abdominal pain, and moderately elevated serum creatine
kinase levels. Gene sequencing revealed a novel mutation in exon 11 of the dystrophin …