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A Novel Mouse Model of Nebulin-Based Nemaline Myopathy

✍ Scribed by Ottenheijm, Coen; Buck, Danielle; de Winter, Josine; Lawlor, Mike; Stienen, Ger; Beggs, Alan; Labeit, Siegfried; Granzier, Henk

Book ID
122302152
Publisher
Biophysical Society
Year
2013
Tongue
English
Weight
40 KB
Volume
104
Category
Article
ISSN
0006-3495

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## Abstract Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair i