Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
cardiomyopathy
genetic testing
neuromuscular disease
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:
22 May 2023
22 May 2023
Historique:
received:
20
04
2023
revised:
15
05
2023
accepted:
20
05
2023
medline:
29
5
2023
pubmed:
27
5
2023
entrez:
27
5
2023
Statut:
epublish
Résumé
Cardiomyopathies are mostly determined by genetic mutations affecting either cardiac muscle cell structure or function. Nevertheless, cardiomyopathies may also be part of complex clinical phenotypes in the spectrum of neuromuscular (NMD) or mitochondrial diseases (MD). The aim of this study is to describe the clinical, molecular, and histological characteristics of a consecutive cohort of patients with cardiomyopathy associated with NMDs or MDs referred to a tertiary cardiomyopathy clinic. Consecutive patients with a definitive diagnosis of NMDs and MDs presenting with a cardiomyopathy phenotype were described. Seven patients were identified: two patients with ACAD9 deficiency (
Identifiants
pubmed: 37240454
pii: ijms24109108
doi: 10.3390/ijms24109108
pmc: PMC10218839
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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