Mitochondrial Membrane Protein-Associated Neurodegeneration: A Case Series of Six Children.
C19orf12 mutations
Children
mitochondrial membrane protein–associated neurodegeneration
Journal
Annals of Indian Academy of Neurology
ISSN: 0972-2327
Titre abrégé: Ann Indian Acad Neurol
Pays: India
ID NLM: 101273955
Informations de publication
Date de publication:
Historique:
received:
14
05
2019
revised:
29
07
2019
accepted:
04
08
2019
entrez:
10
3
2021
pubmed:
11
3
2021
medline:
11
3
2021
Statut:
ppublish
Résumé
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene
Identifiants
pubmed: 33688131
doi: 10.4103/aian.AIAN_268_19
pii: AIAN-23-802
pmc: PMC7900730
doi:
Types de publication
Case Reports
Langues
eng
Pagination
802-804Informations de copyright
Copyright: © 2006 - 2020 Annals of Indian Academy of Neurology.
Déclaration de conflit d'intérêts
There are no conflicts of interest.
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