Perrin, Aurélien <br/><br/>
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.  [electronic resource] 

 -  Annals of clinical and translational neurology  05 2020 
 - 846-854 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2328-9503 
<br/><br/><label>Standard No.: </label>10.1002/acn3.51031  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Connectin--genetics<br/>Deltoid Muscle--pathology<br/>Female<br/>Humans<br/>Male<br/>Muscular Diseases--congenital<br/>Myosin Heavy Chains--deficiency<br/>Pedigree<br/>Siblings