A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Kollberg, Gittan

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. [electronic resource] - Neuromuscular disorders : NMD Feb 2009 - 147-50 p. digital

Publication Type: Case Reports; Journal Article

0960-8966

10.1016/j.nmd.2008.11.014 doi


Acidosis, Lactic--genetics
Acute Kidney Injury--genetics
Cell Cycle Proteins--genetics
DNA Mutational Analysis
DNA, Mitochondrial--genetics
Deoxyribonucleotides--biosynthesis
Down-Regulation
Fatal Outcome
Genetic Markers--genetics
Genetic Predisposition to Disease--genetics
Homozygote
Humans
Infant
Male
Mitochondrial Diseases--genetics
Muscle Fibers, Skeletal--metabolism
Muscle Hypotonia--genetics
Muscle, Skeletal--metabolism
Muscular Diseases--genetics
Mutation, Missense--genetics
Ribonucleotide Reductases--genetics
Sequence Homology, Amino Acid