Willemsen, Marjolein <br/><br/>
Females with PDHA1 gene mutations: a diagnostic challenge.  [electronic resource] 

 -  Mitochondrion  Jun 2006 
 - 155-9 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1567-7249 
<br/><br/><label>Standard No.: </label>10.1016/j.mito.2006.03.001  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Biopsy<br/>Child<br/>Child, Preschool<br/>Chromosomes, Human, X<br/>Female<br/>Fibroblasts--metabolism<br/>Humans<br/>Infant<br/>Muscles--metabolism<br/>Mutation<br/>Point Mutation<br/>Pyruvate Dehydrogenase (Lipoamide)--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--diagnosis<br/>X Chromosome Inactivation