Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
autophagy genes
genetic modifiers
late-onset form of Pompe disease
modifiers factors
skeletal muscle biopsies
whole exome sequencing
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
31 Mar 2021
31 Mar 2021
Historique:
received:
06
03
2021
revised:
24
03
2021
accepted:
29
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
14
5
2021
Statut:
epublish
Résumé
Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of
Identifiants
pubmed: 33807278
pii: ijms22073625
doi: 10.3390/ijms22073625
pmc: PMC8036926
pii:
doi:
Substances chimiques
GAA protein, human
EC 3.2.1.20
alpha-Glucosidases
EC 3.2.1.20
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Regione Campania
ID : not available
Organisme : Ministero dello Sviluppo Economico
ID : F/050011/01/X32
Organisme : Ministero della Salute
ID : Ricerca corrente
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