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

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...

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Bibliographic Details
Main Authors: Lawlor Michael W, Ottenheijm Coen A, Lehtokari Vilma-Lotta, Cho Kiyomi, Pelin Katarina, Wallgren-Pettersson Carina, Granzier Henk, Beggs Alan H
Format: Article
Language:English
Published: BMC 2011-06-01
Series:Skeletal Muscle
Subjects:
congenital myopathy
nemaline myopathy
nemaline rod (body)
thin filament
nebulin
Online Access:http://www.skeletalmusclejournal.com/content/1/1/23

Internet

http://www.skeletalmusclejournal.com/content/1/1/23

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