Final Exon Frameshift Biallelic
ESCRT
HSP
PTPN23
hereditary spastic paraplegia
protein tyrosine phosphatase
Journal
Brain sciences
ISSN: 2076-3425
Titre abrégé: Brain Sci
Pays: Switzerland
ID NLM: 101598646
Informations de publication
Date de publication:
11 May 2021
11 May 2021
Historique:
received:
12
04
2021
revised:
04
05
2021
accepted:
06
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
3
6
2021
Statut:
epublish
Résumé
The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as 'pure' when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and 'complex' when associated with other clinical signs. Here, we identify a homozygous frameshift alteration occurring in the last coding exon of the protein tyrosine phosphatase type 23 (
Identifiants
pubmed: 34064836
pii: brainsci11050614
doi: 10.3390/brainsci11050614
pmc: PMC8151426
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Medical Research Council
ID : G1002279
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_15054
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_15047
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 220600/Z/20/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L023784/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_18047
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1001931
Pays : United Kingdom
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