A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):470-2. doi: 10.3109/21678421.2012.756036. Epub 2013 Jan 3.

Authors

Marco Luigetti¹, Serena Lattante, Amelia Conte, Angela Romano, Marcella Zollino, Giuseppe Marangi, Mario Sabatelli

Affiliation

¹ Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. [email protected]

PMID: 23282280
DOI: 10.3109/21678421.2012.756036

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amyotrophic Lateral Sclerosis / genetics*
Guanine Nucleotide Exchange Factors / genetics*
Heterozygote
Humans
Male
Young Adult

Substances

ALS2 protein, human
Guanine Nucleotide Exchange Factors

Supplementary concepts

Amyotrophic Lateral Sclerosis 2, Juvenile