Danon disease and a new mutation of the LAMP-2 gene in a Spanish family
Neurologia. 2017 Jun;32(5):331-332.
doi: 10.1016/j.nrl.2015.07.003.
Epub 2015 Sep 15.
[Article in
English,
Spanish]
Affiliations
- 1 Servicio de Neurología, Hospital Miguel Servet, Zaragoza, España. Electronic address: pmpjmp@gmail.com.
- 2 Servicio de Neuropediatría, Hospital Miguel Servet, Zaragoza, España.
- 3 Servicio de Anatomía Patológica, Hospital Miguel Servet, Zaragoza, España.
No abstract available
MeSH terms
-
Child
-
Dystrophin / genetics
-
Glycogen Storage Disease Type IIb / genetics*
-
Glycogen Storage Disease Type IIb / pathology
-
Humans
-
Lysosomal-Associated Membrane Protein 2 / genetics*
-
Male
-
Mutation*
-
Quadriceps Muscle / pathology
-
Sequence Analysis, DNA
Substances
-
Dystrophin
-
LAMP2 protein, human
-
Lysosomal-Associated Membrane Protein 2