Article
In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype.
Neuromuscular disorders : NMD - 1 Apr 2013
Gineste C, De Winter J M, Kohl C, Witt C C, Giannesini B, Brohm K, Le Fur Y, Gretz N, Vilmen C, Pecchi E, Jubeau M, Cozzone P J, Stienen G J M, Granzier H, Labeit S, Ottenheijm C A C, Bendahan D, Gondin J
Abstract excerpt
Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which...
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