Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Chile
LGMD
hereditary myopathies
high-throughput sequencing
limb-girdle muscle weakness
next-generation sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
16 06 2022
16 06 2022
Historique:
received:
09
05
2022
revised:
04
06
2022
accepted:
13
06
2022
entrez:
24
6
2022
pubmed:
25
6
2022
medline:
28
6
2022
Statut:
epublish
Résumé
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Chilean patients presenting with limb-girdle muscle weakness of unknown etiology. Eighty-two patients were explored using high-throughput sequencing approaches with neuromuscular gene panels, establishing a definite genetic diagnosis in 49 patients (59.8%) and a highly probable genetic diagnosis in eight additional cases (9.8%). The most frequent causative genes identified were
Identifiants
pubmed: 35741838
pii: genes13061076
doi: 10.3390/genes13061076
pmc: PMC9223019
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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