Group of diseases caused by anomalies of desmin.
Types (exemples)
desmin myopathy
Synopsis
granulofilamentous deposits of mutated desmin
References
Paulin D, Huet A, Khanamyrian L, Xue Z. Desminopathies in muscle disease. J Pathol. 2004 Nov;204(4):418-27. PMID: #15495235#
Wang X, Osinska H, Gerdes AM, Robbins J. Desmin filaments and cardiac disease: establishing causality. J Card Fail. 2002 Dec;8(6 Suppl):S287-92. PMID: #12555134#
Zhang J, Kumar A, Stalker HJ, Virdi G, Ferrans (...)
Home > Keywords > Disease > Disease group (molecular)
Disease group (molecular)
Articles
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sarcoglycanopathies
19 March 2004 -
desminopathies
19 March 2004 -
sarcomyopathies
18 March 2004sarcomeropathies, sarcomeric protein diseases, inherited disorders of sarcomeric proteins, inherited disorders of contractile proteins in skeletal and cardiac muscle
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myofibrillar myopathies
7 March 2004The term myofibrillar myopathy was proposed in 1996 to encompass the spectrum of disorders characterized by an accumulation of myofiber degradation products with abnormal expression of various proteins.
Myofibrillar myopathy (MFM) is a non-committal term for a pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins that include desmin, alphaB-crystallin (alphaBC), dystrophin and (...) -
dystrophinopathies
19 March 2004See also
dystrophin
dystrophin-glycoprotein complex -
surplus protein myopathies
19 March 2004Sporadic and familial neuromuscular conditions marked by a surplus of proteins present in a granular or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline body myopathy.
desminopathies: mutations in the desmin and alpha-B crystallin genes
actinopathy: mutations in the actin gene
surplus sarcoplasmic and/or intranuclear nemaline bodies mutation in tropomyosin-3 mutation in actin mutation in nebulin
References
Goebel HH, Warlo IA. Surplus protein (...) -
phosphoinositide signaling diseases
15 June 2004phosphoinositide signaling disorders
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hyper-IgE recurrent infection syndromes
30 June 2011HIES, hyper-IgE recurrent infection syndrome
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protein misfolding diseases
14 January 2006protein-misfolding diseases, misfolding diseases, protein folding associated diseases
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cardiac channelopathies
18 March 2004In arrhythmogenic disorders, the long QT syndromes and Brugada syndrome, mutations have been described in a number of ion channel proteins, including cardiac potassium (KVLQT1, HERG and minK) and sodium (SCN5A) channels.