Bánfai, Zsolt <br/><br/>
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.  [electronic resource] 

 -  BMC medical genetics  09 2017 
 - 105 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-017-0463-y  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cardiac Myosins--genetics<br/>Distal Myopathies--diagnostic imaging<br/>Genetic Predisposition to Disease<br/>Genetic Variation<br/>Humans<br/>Male<br/>Middle Aged<br/>Muscle, Skeletal--pathology<br/>Muscular Diseases--congenital<br/>Mutation<br/>Myopathies, Structural, Congenital--diagnostic imaging<br/>Myosin Heavy Chains--genetics<br/>Ophthalmoplegia--diagnostic imaging<br/>Phenotype<br/>Ryanodine Receptor Calcium Release Channel--deficiency<br/>Muscular Dystrophy, Emery-Dreifuss