Novel mutations in <it>NEB </it>cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

<p>Abstract</p> <p>Background</p> <p>Nemaline myopathy (NM) is a congenital muscle disease associated with weakness and the presence of nemaline bodies (rods) in muscle fibers. Mutations in seven genes have been associated with NM, but the most commonly mutated gene is nebulin (<it>NEB</it>), which...

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Egile Nagusiak:	Lawlor Michael W, Ottenheijm Coen A, Lehtokari Vilma-Lotta, Cho Kiyomi, Pelin Katarina, Wallgren-Pettersson Carina, Granzier Henk, Beggs Alan H
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2011-06-01
Saila:	Skeletal Muscle
Gaiak:	congenital myopathy nemaline myopathy nemaline rod (body) thin filament nebulin
Sarrera elektronikoa:	http://www.skeletalmusclejournal.com/content/1/1/23
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