Identification of a de novo mutation in SPG11

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Bibliographic Details
Published in:Movement disorders 2010-03, Vol.25 (4), p.501-503
Main Authors: Denora, Paola S., Brockmann, Knut, Ciccolella, Marianna, Truchetto, Jeremy, Stevanin, Giovanni, Santorelli, Filippo M.
Format: Article
Language:English
Subjects:
Adolescent
Atrophy - complications
Child
Chromosomes, Human, Pair 15 - genetics
Chromosomes, Human, Y - genetics
Corpus Callosum - pathology
DNA Mutational Analysis
Exons - genetics
Female
Humans
Male
Paraplegia - complications
Paraplegia - genetics
Pedigree
Point Mutation - genetics
Proteins - genetics
Young Adult
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ISSN:0885-3185
1531-8257
DOI:10.1002/mds.22964