Levesque, L <br/><br/>
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Mar 2013 
 - 239-42 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1873-2364 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2012.12.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Actins--genetics<br/>Child<br/>Child, Preschool<br/>Female<br/>Genetic Association Studies<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Muscle, Skeletal--pathology<br/>Mutation<br/>Myopathies, Nemaline--genetics<br/>Phenotype<br/>Severity of Illness Index