Deschauer, Marcus <br/><br/>
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Sep 2003 
 - 568-72 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0960-8966 
<br/><br/><label>Standard No.: </label>10.1016/s0960-8966(03)00071-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Base Sequence<br/>Blotting, Southern--methods<br/>DNA Helicases<br/>DNA Mutational Analysis<br/>DNA Primase--genetics<br/>DNA-Binding Proteins--genetics<br/>Family Health<br/>Female<br/>Heterozygote<br/>Humans<br/>Lysine--genetics<br/>Male<br/>Middle Aged<br/>Mitochondrial Proteins<br/>Molecular Biology--methods<br/>Muscles--metabolism<br/>Mutation<br/>Ophthalmoplegia, Chronic Progressive External--etiology<br/>Pedigree<br/>Polymorphism, Restriction Fragment Length<br/>Reverse Transcriptase Polymerase Chain Reaction--methods<br/>Sequence Alignment<br/>Threonine--genetics<br/>Viral Proteins--genetics