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Articles tagged with mutations

How many mutations are there? - A review by Dr Karl Bettelheim

Article submitted by Dr Karl Bettelheim published on the 13th of Janauary 2010In a recent paper (1), Flanigan and a large number of associates across the United States report on a multicentre stud...

Tags: mutations, multiexon genes.

The problems of duchenne and new possible therapies

Duchenne muscular dystrophy is caused by mutations (genetic mistakes) that disrupt the genetic code of the dystrophin gene. This gene is normally translated by muscle cells into the dystrophin pro...

Tags: muscle contraction, muscle fiber, mutations.

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy.

Mutations in the dystrophin gene have long been recognised as a cause of mental retardation. However, for reasons that are unclear, some boys with dystrophin mutations do not show general cognitiv...

Tags: Mutations, dystrophin, isoform, cognitive deficits.