Authors | Iulia Munteanu, Nivetha Ramachandran, Alessandra Ruggieri, Tomonari Awaya, Ichizo Nishino, Berge A Minassian |
Journal | Neurology
(Neurology)
Vol. 84
Issue 16
Pg. 1714-6
(Apr 21 2015)
ISSN: 1526-632X [Electronic] United States |
PMID | 25817839
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- VMA21 protein, human
- Vacuolar Proton-Translocating ATPases
|
Topics |
- Adolescent
- Adult
- Genetic Diseases, X-Linked
(genetics, physiopathology)
- Humans
- Lysosomal Storage Diseases
(genetics, physiopathology)
- Male
- Muscular Diseases
(genetics, physiopathology)
- Mutation
(genetics)
- Siblings
- Vacuolar Proton-Translocating ATPases
(genetics)
- Young Adult
|