Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.
De Sandre-Giovannoli
A
A
Inserm U491, Génétique Médicale et Développement, Faculté de Médecine la Timone, 13385 Marseille, France.
Chaouch
M
M
Boccaccio
I
I
Bernard
R
R
Delague
V
V
Grid
D
D
Vallat
J M
JM
Lévy
N
N
Mégarbané
A
A
D017398:Alternative Splicing / Q000235:genetics; D001369:Axons / Q000502:physiology; D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D003241:Consanguinity; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004594:Electrophysiology; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010543:Peroneal Nerve / Q000473:pathology / Q000648:ultrastructure; D010641:Phenotype
D018389:Codon, Nonsense; D018076:DNA, Complementary; C118663:GDAP protein; D009419:Nerve Tissue Proteins; D004247:DNA