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Desmin-related myopathy
- Source :
- Clinical genetics, 80(4), 354-366. Wiley-Blackwell, Clinical Genetics, 80(4), 354-366. Wiley
- Publication Year :
- 2011
- Publisher :
- Wiley, 2011.
-
Abstract
- Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We provide (i) a literature review on DRM, including clinical manifestations, inheritance, molecular genetics, myopathology and management and (ii) a meta-analysis of reported DES mutation carriers, focusing on their clinical characteristics and potential genotype-phenotype correlations. Meta-analysis: DES mutation carriers (n = 159) with 40 different mutations were included. Neurological signs were present in 74% and cardiological signs in 74% of carriers (both neurological and cardiological signs in 49%, isolated neurological signs in 22%, and isolated cardiological signs in 22%). More than 70% of carriers exhibited myopathy or muscular weakness, with normal creatine kinase levels present in one third of them. Up to 50% of carriers had cardiomyopathy and around 60% had cardiac conduction disease or arrhythmias, with atrioventricular block as an important hallmark. Symptoms generally started during the 30s; a quarter of carriers died at a mean age of 49 years. Sudden cardiac death occurred in two patients with a pacemaker, suggesting a ventricular tachyarrhythmia as cause of death. The majority of DES mutations were missense mutations, mostly located in the 2B domain. Mutations in the 2B domain were predominant in patients with an isolated neurological phenotype, whereas head and tail domain mutations were predominant in patients with an isolated cardiological phenotype.
- Subjects :
- Pathology
medicine.medical_specialty
Heterozygote
cardiac-phenotype
Cardiomyopathy
Inheritance Patterns
desmin
ALPHA-B-CRYSTALLIN
CARDIOSKELETAL MYOPATHY
Sudden cardiac death
Muscular Diseases
CLINICAL CHARACTERISTICS
MYOFIBRILLAR MYOPATHIES
MISSENSE MUTATION
SKELETAL MYOPATHY
Cardiac conduction
Genetics
medicine
Missense mutation
Humans
Myopathy
Genetics (clinical)
Genetic Association Studies
INTERMEDIATE-FILAMENTS
RESTRICTIVE CARDIOMYOPATHY
business.industry
Restrictive cardiomyopathy
Dilated cardiomyopathy
Arrhythmias, Cardiac
medicine.disease
DILATED CARDIOMYOPATHY
DOMINANT DISTAL MYOPATHY
Desmin
medicine.symptom
mutation
business
Cardiomyopathies
cardiomyopathy
myopathy
Subjects
Details
- Language :
- English
- ISSN :
- 13990004 and 00099163
- Volume :
- 80
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....23a3c50ddb71eaf79dc075ed2d05dd52
- Full Text :
- https://doi.org/10.1111/j.1399-0004.2010.01512.x