Cargando…
Genotype–Phenotype Correlations in MPAN Due to C19orf12 Variants
Autor principal: | Finsterer, Josef |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061527/ https://www.ncbi.nlm.nih.gov/pubmed/33911390 http://dx.doi.org/10.4103/aian.AIAN_383_20 |
Ejemplares similares
-
The Leigh phenotype resulting from C12orf65
variants
por: Finsterer, Josef
Publicado: (2020) -
A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone
por: Chen, Sihui, et al.
Publicado: (2023) -
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN): Two Phenotypes—Dystonia and Spastic Paraparesis
por: Kola, Sruthi, et al.
Publicado: (2022) -
Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations
por: Finsterer, Josef
Publicado: (2018) -
Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C > T
por: Finsterer, Josef
Publicado: (2018)