Update on polyglucosan storage diseases.
Glycogen storage
Glycogenin-1
Lafora
Polyglucosan
Polyglucosan storage
Journal
Virchows Archiv : an international journal of pathology
ISSN: 1432-2307
Titre abrégé: Virchows Arch
Pays: Germany
ID NLM: 9423843
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
12
06
2019
accepted:
22
07
2019
revised:
18
07
2019
pubmed:
1
8
2019
medline:
21
12
2019
entrez:
1
8
2019
Statut:
ppublish
Résumé
An abnormal structural form of glycogen (with less branching points or amylopectin-like polysaccharide) called polyglucosan (PG) may accumulate in various tissues such as striated and smooth muscles, brain, nerve, liver and skin, and cause a group of nine different genetic disorders manifesting with a variety of clinical phenotypes that affect mainly the nervous system (Lafora disease, adult PG body disease), the heart (glycogen storage disease type XV, hypertrophic cardiomyopathy type 6, PG body myopathy type 1) and the skeletal muscle (glycogen storage disease type IV, glycogen storage disease type VII, PG body myopathy type 2), depending on the organs which are mostly affected by the PG aggregates. The pathological feature of PG storage in tissues is a hallmark of these disorders. Whole-genome sequencing has allowed to obtain a diagnosis in a large number of patients with a previously unrecognized disorder. We describe the clinical, pathological and molecular features of these genetic disorders, for many of which the pathological mechanisms underlying the corresponding mutant gene have been investigated and, at least in part, understood.
Identifiants
pubmed: 31363843
doi: 10.1007/s00428-019-02633-6
pii: 10.1007/s00428-019-02633-6
doi:
Substances chimiques
Glucans
0
Polysaccharides
0
polyglucosan
9012-72-0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
671-686Références
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