Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
Haberlová
J
J
Claeys
K G
KG
Zámecník
J
J
De Jonghe
P
P
Seeman
P
P
D002648:Child; D003062:Codon; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D020558:GTP Phosphohydrolases / Q000737:chemistry / Q000235:genetics*; D019204:GTP-Binding Proteins; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology / Q000503:physiopathology*; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D017434:Protein Structure, Tertiary / Q000235:genetics; D012720:Severity of Illness Index; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013497:Sural Nerve / Q000473:pathology; D014855:Wallerian Degeneration / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
D003062:Codon; D005819:Genetic Markers; D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins