TY  - GEN
AU  - Kollberg,Gittan
AU  - Darin,Niklas
AU  - Benan,Karin
AU  - Moslemi,Ali-Reza
AU  - Lindal,Sigurd
AU  - Tulinius,Már
AU  - Oldfors,Anders
AU  - Holme,Elisabeth
TI  - A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
SN  - 0960-8966
PY  - 2009///0504
KW  - Acidosis, Lactic
KW  - genetics
KW  - Acute Kidney Injury
KW  - Cell Cycle Proteins
KW  - DNA Mutational Analysis
KW  - DNA, Mitochondrial
KW  - Deoxyribonucleotides
KW  - biosynthesis
KW  - Down-Regulation
KW  - Fatal Outcome
KW  - Genetic Markers
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mitochondrial Diseases
KW  - Muscle Fibers, Skeletal
KW  - metabolism
KW  - Muscle Hypotonia
KW  - Muscle, Skeletal
KW  - Muscular Diseases
KW  - Mutation, Missense
KW  - Ribonucleotide Reductases
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2008.11.014
ER  -