A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations-Reference-Cited by-同舟云学术

A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations

Published:2013-03 Issue:3 Volume:23 Page:239-242
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

L. Levesque,M.R. Del Bigio,S. Krawitz,A.A. Mhanni

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Fetal akinesia sequence caused by nemaline myopathy;Lammens;Neuropediatrics,1997

2. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1);Sparrow;Neuromuscul Disord,2003

3. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene;Ilkovski;Am J Hum Genet,2001

4. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores;Sambuughin;Am J Hum Genet,2010

5. Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands;Wallgren-Pettersson;Neuromuscul Disord,2000

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