Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder. The mutations of Cu/Zn superoxide dismutase gene (SOD1) are responsible for familial ALS. We investigated a large family of Istro-Rumanian origin characterized by an autosomal dominant ALS occurring in 18 cases (three of which are still alive) throughout six generations.
ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene
Amoroso, A
2001-01-01
Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder. The mutations of Cu/Zn superoxide dismutase gene (SOD1) are responsible for familial ALS. We investigated a large family of Istro-Rumanian origin characterized by an autosomal dominant ALS occurring in 18 cases (three of which are still alive) throughout six generations.
File in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
ALSjns.pdf
Accesso riservato
Tipo di file:
PDF EDITORIALE
Dimensione
149.58 kB
Formato
Adobe PDF
|
149.58 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
