Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

Bertini, Enrico; Bosman, Cesare; Bevilacqua, Maurizio; Ricci, Enzo; Gagliardi, Maria Giulia; Parisi, Francesco; Servidei, Serenella; Dionisi‐Vici, Carlo; Ballerini, Luigi

doi:10.1007/bf02072073

Cited by 39 publications

(22 citation statements)

References 5 publications

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“…Therefore, the partial disruption of intercalated discs in plectin-deficient mice may reflect an increased fragility of desmosomes, assuming that plectin molecules mechanically strengthen these structures similar to hemidesmosomes. Interestingly, in some studies, minicore/multicore diseases were found to be associated with cardiomyopathy (Magliocco et al 1989;Bertini et al 1990), which was at least in one case associated with abnormal accumulation of IFs (Bertini et al 1990). It is therefore tempting to speculate that a common molecular mechanism involving plectin exists for these myopathies.…”

Section: Is Plectin Involved In Diseases Other Than Ebs-md?mentioning

confidence: 99%

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

Andrä¹,

Lassmann²,

Bittner³

et al. 1997

Genes Dev.

307

234

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Previous studies suggest that plectin, a versatile cytoskeletal linker protein, has an important role in maintaining the structural integrity of diverse cells and tissues. To establish plectin's function in a living organism, we have disrupted its gene in mice. Plectin (−/−) mice died 2-3 days after birth exhibiting skin blistering caused by degeneration of keratinocytes. Ultrastructurally, hemidesmosomes and desmosomes appeared unaffected. In plectin-deficient mice, however, hemidesmosomes were found to be significantly reduced in number and apparently their mechanical stability was altered. The skin phenotype of these mice was similar to that of patients suffering from epidermolysis bullosa simplex (EBS)-MD, a hereditary skin blistering disease with muscular dystrophy, caused by defects in the plectin gene. In addition, plectin (−/−) mice revealed abnormalities reminiscent of minicore myopathies in skeletal muscle and disintegration of intercalated discs in heart. Our results clearly demonstrate a general role of plectin in the reinforcement of mechanically stressed cells. Plectin (−/−) mice will provide a useful tool for the study of EBS-MD, and possibly other types of plectin-related myopathies involving skeletal and cardiac muscle, in an organism amenable to genetic manipulation.

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Section: Is Plectin Involved In Diseases Other Than Ebs-md?mentioning

confidence: 99%

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

Andrä¹,

Lassmann²,

Bittner³

et al. 1997

Genes Dev.

307

234

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“…There has been no previous report of multicore myopathy associated with multiple pterygium syndrome, and the occurrence of cardiac disease in conjunction with multicore myopathy has been described in only a few patients [1,9,15], descriptions of the cardiac pathology being rare. We report a rare case of multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy.…”

Section: Introductionmentioning

confidence: 90%

Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy

et al. 1996

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A boy with multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy is described. Light microscopy of biopsy samples from the skeletal muscle and myocardium revealed multiple cores in the muscle fibers in the former but their absence in the latter. These results suggest that the pathogenesis of the histologic changes might differ between skeletal muscle and myocardium, and that further electron microscopic examination be done on both types of specimen. The prognosis of multicore myopathy is not usually good when cardiac involvement is present.

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“…4,10,11,37 Immunofluorescent staining, immunohistochemical studies, and electron microscopy may be necessary for detecting diseases such as eosinophilia-myalgia syndrome, desminopathy, cystinosis, and Fabry's disease. 5,20,25,26,38 In RCMP due to amyloidosis, myocardial biopsy shows interstitial amyloid deposits. 24,39 Immunohistochemical staining determines the type of amyloid.…”

Section: Endomyocardial Biopsymentioning

confidence: 99%

“…Cardiac transplantation was performed in 4% of 94 patients with RCMP during a 68-month follow-up period. 4,38 In atrial fibrillation, oral anticoagulation is indicated to prevent stroke or embolism. 34 …”

Section: Therapymentioning

confidence: 99%

Extracardiac Medical and Neuromuscular Implications in Restrictive Cardiomyopathy

Stöllberger

Finsterer

2007

Clinical Cardiology

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Restrictive cardiomyopathy (RCMP) is characterized by restrictive filling and reduced diastolic volume of either or both ventricles with normal or near‐normal systolic function and wall thickness. It may occur idiopathically or as a cardiac manifestation of systemic diseases such as scleroderma, amyloidosis, Churg‐Strauss syndrome, cystinosis, sarcoidosis, lymphoma, Gaucher's disease, hemochromatosis, Fabry's disease, pseudoxanthoma elasticum, hypereosinophilic syndrome, carcinoid, Noonan's syndrome, reactive arthritis, or Werner's syndrome and various neuromuscular disorders. Whereas in idiopathic RCMP the therapeutic options are only treatment of cardiac congestion, in cases with an underlying disorder, a causal therapy may be available. Patients with RCMP should be investigated as soon as the cardiac diagnosis is established for extracardiac diseases to detect a possibly treatable cause of RCMP before the disease becomes intractable. These investigations include a diligent clinical history and examination, blood tests, and ophthalmologic, otologic, dermatologic, gastroenterologic, nephrologic, hematologic, and neurologic examinations. If extracardiac examinations do not reveal a plausible cause for RCMP, endomyocardial biopsy is indicated. Copyright © 2007 Royal Meteorological Society

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Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

Cited by 39 publications

References 5 publications

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy

Extracardiac Medical and Neuromuscular Implications in Restrictive Cardiomyopathy

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