Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

Melberg, Atle; Oldfors, Anders; Blomström‐Lundqvist, Carina; Stålberg, Erik; Carlsson, Birgit; Larsson, Erik; Lidell, Christer; Eeg‐Olofsson, Karin Edebol; Wikström, Gerhard; Henriksson, K. G.; Dahl, Niklas

doi:10.1002/1531-8249(199911)46:5<684::aid-ana2>3.0.co;2-#

Cited by 119 publications

(69 citation statements)

References 38 publications

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“…3 The muscle biopsy alterations in three out of these five turned out to be unspecific and not sufficient for a diagnosis of MFM. We have not diagnosed a specific muscular disease in these three asymptomatic individuals without desmin storage.…”

Section: Discussionmentioning

confidence: 99%

“…This was the first family reported with MFM in association with ARVC. 3 Because of its putative unique map position on chromosome 10q22.3 this disease has been named ARVC7 (OMIM entry 609160). The ZASP gene located in the vicinity of the 10q22.3 region has been reported to be mutated in patients with MFM and some of them had cardiac involvement.…”

Section: Discussionmentioning

confidence: 99%

“…Clinical and morphological features of affected family members have been reported in a previous study in which multipoint peak LOD score of 3.06 between markers D10S605 and D10S215 suggested linkage to chromosome 10q22.3. 3 There was variable onset and severity of skeletal muscle and cardiac manifestations. The muscle weakness was axial in mildly affected, axial and distal in moderately affected or generalized in severely affected patients.…”

Section: Patients and Methods Patientsmentioning

confidence: 99%

“…There was severe fibrofatty infiltration of the right ventricle in one man at autopsy. 3 Since the original study in 1999 3 one man with MFM and ARVC died at age 39. One woman developed atrial fibrillation at age 59 years.…”

Section: Patients and Methods Patientsmentioning

confidence: 99%

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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

et al. 2012

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Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family. A heterozygous C-to-T transition, c.1255C>T, p.Pro419Ser in the desmin gene on chromosome 2q35, was identified. Previous studies had demonstrated linkage to chromosome 10q22.3, but no causative mutation had been found in that region. Sanger sequencing of DNA from 17 family members confirmed the heterozygous c.1255C>T desmin mutation in seven out of ten family members that had been classified as affected in the previous study. Our new results demonstrate the usefulness of next-generation sequencing, and the diagnostic difficulties with some forms of dominantly inherited muscle diseases as they can display a wide clinical and morphological variability even within a given family. European Journal of Human Genetics (2012) 20, 984-985; doi:10.1038/ejhg.2012.39; published online 7 March 201

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Patients and Methods Patientsmentioning

confidence: 99%

Section: Patients and Methods Patientsmentioning

confidence: 99%

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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

et al. 2012

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“…8,12 Genetic linkage of clinically and pathologically confirmed desminopathy to other loci has also been demonstrated. 13,14 A more inclusive group of disorders named myofibrillar myopathy includes conditions associated with mutations in SEPN1, myotilin, ZASP and Filamin C. 15 Genetic mechanisms influence desminopathy phenotype in several ways: (a) dominant, recessive and de novo mutations cause somewhat distinct syndromes; (b) desmin is expressed in skeletal, cardiac and smooth muscles, hence, combinations of damage in various tissues result in diverse phenotypes; and (c) the type and location of the mutation in DES or CRYAB may produce additional phenotypic modifications.…”

Section: Introductionmentioning

confidence: 99%

Intermediate Filament Diseases: Desminopathy

Goldfarb

Olivé

Vicart³

et al. 2008

Advances in Experimental Medicine and Biology

104

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Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin. The inheritance pattern in familial desminopathy is characterized as autosomal dominant or autosomal recessive, but many cases have no family history. At least some and likely most sporadic desminopathy cases are associated with de novo DES mutations. The age of disease onset and rate of progression may vary depending on the type of inheritance and location of the causative mutation. Typically, the illness presents with lower and later upper limb muscle weakness slowly spreading to involve truncal, neckflexor, facial and bulbar muscles. Skeletal myopathy is often combined with cardiomyopathy manifested by conduction blocks, arrhythmias and chronic heart failure resulting in premature sudden death. Respiratory muscle weakness is a major complication in some patients. Sections of the affected skeletal and cardiac muscles show abnormal fibre areas containing chimeric aggregates consisting of desmin and other cytoskeletal proteins. Various DES gene mutations: point mutations, an insertion, small in-frame deletions and a larger exon-skipping deletion, have been identified in desminopathy patients. The majority of these mutations are located in conserved alpha-helical segments, but additional mutations have recently been identified in the tail domain. Filament and network assembly studies indicate that most but not all disease-causing mutations make desmin assembly-incompetent and able to disrupt a pre-existing filamentous network in dominant-negative fashion. AlphaBcrystallin serves as a chaperone for desmin preventing its aggregation under various forms of stress; mutant CRYAB causes cardiac and skeletal myopathies identical to those resulting from DES mutations.

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