Alston, Charlotte L <br/><br/>
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.  [electronic resource] 

 -  Human genetics  Aug 2015 
 - 869-79 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-015-1568-z  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Cardiomyopathy, Hypertrophic, Familial--enzymology<br/>Citric Acid Cycle--genetics<br/>Genes, Recessive<br/>Heart Defects, Congenital--enzymology<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mitochondrial Proteins--genetics<br/>Mutation, Missense<br/>Succinate Dehydrogenase--genetics