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- Title
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
- Authors
Jia, Weimin; Luo, Yalin; Zhang, Tengfei; Yang, Ying; Zhang, Xianqin
- Abstract
Since Krabbe disease is a kind of LDLs, and some patients with LDLs could exhibit MS phenotype; therefore, we believe that Mongolian spot might be a new phenotype of Krabbe disease. In fact, according to global reports, the phenotype and genotype of Krabbe disease are diverse and can be accompanied by hereditary spastic paraplegia, Charcot-Marie-Tooth disease, and Kennedy disease [[10]-[12]]. 6560759 11 Xu C, Sakai N, Taniike M, Inui K, Ozono K. Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.
- Subjects
GENETIC mutation; LYSOSOMAL storage diseases; AMINO acid residues; FRAMESHIFT mutation; AMINO acid sequence
- Publication
Neurological Sciences, 2023, Vol 44, Issue 7, p2605
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-023-06748-2