Low-level dystrophin expression attenuating the dystrophinopathy phenotype
MA Waldrop, F Gumienny, S El Husayni… - Neuromuscular …, 2018 - Elsevier
The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from
DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular
dystrophy results from mutations causing an in-frame transcript. However, predicted
nonsense mutations may instead result in altered splicing and an in-frame transcript. Here
we report a 10-year-old boy with a predicted nonsense mutation in exon 42 who had a 6-
minute walk time of 157% of that of age matched DMD controls, characterized as …
DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular
dystrophy results from mutations causing an in-frame transcript. However, predicted
nonsense mutations may instead result in altered splicing and an in-frame transcript. Here
we report a 10-year-old boy with a predicted nonsense mutation in exon 42 who had a 6-
minute walk time of 157% of that of age matched DMD controls, characterized as …
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