What impact does a Becker mutation have on the dystrophin protein?

The dystrophin protein normally sits in the membrane that surrounds muscle fibres like a skin, and protects the membrane from damage during muscle contraction. Without dystrophin the muscle fibre membranes become damaged and eventually the muscle fibres die. Dystrophin is a very large protein with a section in the middle consisting of lots of repeated segments (in green below) and it is known that the protein can still work to some extent if some of these repeated segments are missing.

Individuals with Becker muscular dystrophy have some of these repeated segments missing and have relatively mild symptoms- often being able to still walk into their 40s and 50s. A man has even been known to be still walking at 61 years of age, despite having a deletion of 46% of the dystrophin gene! More.

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