Kollberg, Gittan <br/><br/>
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.  [electronic resource] 

 -  Neuromuscular disorders : NMD  Feb 2009 
 - 147-50 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0960-8966 
<br/><br/><label>Standard No.: </label>10.1016/j.nmd.2008.11.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acidosis, Lactic--genetics<br/>Acute Kidney Injury--genetics<br/>Cell Cycle Proteins--genetics<br/>DNA Mutational Analysis<br/>DNA, Mitochondrial--genetics<br/>Deoxyribonucleotides--biosynthesis<br/>Down-Regulation<br/>Fatal Outcome<br/>Genetic Markers--genetics<br/>Genetic Predisposition to Disease--genetics<br/>Homozygote<br/>Humans<br/>Infant<br/>Male<br/>Mitochondrial Diseases--genetics<br/>Muscle Fibers, Skeletal--metabolism<br/>Muscle Hypotonia--genetics<br/>Muscle, Skeletal--metabolism<br/>Muscular Diseases--genetics<br/>Mutation, Missense--genetics<br/>Ribonucleotide Reductases--genetics<br/>Sequence Homology, Amino Acid