Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene
β Scribed by Stefano Sartori; Alberto B. Burlina; Leonardo Salviati; Eva Trevisson; Irene Toldo; Anna Maria Laverda; Alessandro P. Burlina
- Book ID
- 113590253
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 176 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1090-3798
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract PelizaeusβMerzbacherβlike disease (PMLD) is a heterogeneous disease with primary hypomyelination of the central nervous system. Only the minority of patients have mutations in the coding region of the __GJA12__ gene encoding gap junction protein alpha 12, a subunit of intercellular chan
Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of
Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4