TY  - GEN
AU  - Galmiche,Louise
AU  - Serre,Valérie
AU  - Beinat,Marine
AU  - Zossou,Raïssa
AU  - Assouline,Zahra
AU  - Lebre,Anne-Sophie
AU  - Chretien,Florence
AU  - Shenhav,Ruthie
AU  - Zeharia,Avraham
AU  - Saada,Ann
AU  - Vedrenne,Vanessa
AU  - Boddaert,Nathalie
AU  - de Lonlay,Pascale
AU  - Rio,Marlène
AU  - Munnich,Arnold
AU  - Rötig,Agnès
TI  - Toward genotype phenotype correlations in GFM1 mutations
SN  - 1872-8278
PY  - 2012///0713
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Brain
KW  - diagnostic imaging
KW  - Brain Damage, Chronic
KW  - genetics
KW  - Female
KW  - Genetic Association Studies
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Liver Failure
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mitochondrial Diseases
KW  - Mitochondrial Proteins
KW  - Models, Molecular
KW  - Molecular Dynamics Simulation
KW  - Molecular Sequence Data
KW  - Mutant Proteins
KW  - Mutation, Missense
KW  - Peptide Elongation Factor G
KW  - Pregnancy
KW  - Radiography
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.mito.2011.09.007
ER  -