LIMB-GIRDLE MUSCULAR DYSTROPHY I
Abstract
Defects in dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. Nonsense mutations have been reported to be most common among Korean patients with dysferlinopathy. More than half of the patients have at least one nonsense allele in dysferlin. Readthrough by ataluren is a promising strategy to overcome nonsense mutation, in use for the nonsense-mediated Duchenne muscular dystrophy. We generated a knock-in mouse with...
Paper Details
Title
LIMB-GIRDLE MUSCULAR DYSTROPHY I
Published Date
Oct 1, 2018
Journal
Volume
28
Pages
S33 - S33
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Notes
History