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Welcome!

And thank you for stopping by! This is our landing page, where we hope to snare your interest to join us in a conversation about a group of rare disorders caused by mutations in the genes for desmin (DES) and alpha-B crystallin (CRYAB), two closely associated proteins important for healthy, functioning muscle.

ATCGs with a silhouette of people - Credit: Jane Ades, NHGRI, 2004.

Yes, our topic is a dense one, with complex concepts and new vocabulary to learn. It can even feel like a classroom lecture at times!  But here at Desminopathy.info, you can always count on us to try our best to make what you find to read digestible and interesting. Here we write for impact, on what is relevant, and draw from reliable sources to bring you the newest results of medical research. 

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We work hard to track down hard-to-find information, develop winning search strategies, and provide you assistance on how to use specific library collections, programs or services for targeted inquiries.

Our trusted sources draw from the best in peer-reviewed scientific journals and curated knowledgebases. If we offer any claim, finding or recommendation about the diagnosis, progression and treatment of desminopathy disorders, we will clearly cite its source (original publication) or indicate that we are putting forward personal opinion—defined as a "belief or conclusion held with confidence, but not substantiated by positive knowledge or proof."1

So join us, won't you? The conversation starts here.

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Did you know?

Did You Know. . ?

  that the DES gene encodes desmin, a muscle-specific cytoskeletal protein found in smooth, cardiac, and heart muscles? Desmin belongs to the type III family of intermediate filaments (IFs), a class of cytoskeletal elements. See MIM:  125660 Desmin; DES

  that defects in DES are the cause of desmin-related cardioskeletal myopathy (CSM)? aka desmin-related myopathy (DRM)? See MIM:  601419  Myopathy, Myofibrillar, Desmin-Related

   that defects in DES are the cause of neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome), an adult-onset, autosomal dominant disorder appearing in the third-fourth decade (later in women)? See MIM: 181400 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

  that a unique form of dilated cardiomyopathy, characterized by dilation and contractile dysfunction of the left and right ventricles that is not due to high blood pressure (hypertension) or ischemic heart disease, results from mutations in DES? See MIM: 604765  Cardiomyopathy, Dilated, II CMDII

  that mutations in the gene for αB-crystallin, a chaperone of the sHsp (small shock protein) group that assists DES to function properly under normal circumstances can also cause fragility of the myofibrils (structures in muscles that help them contract)? See MIM: +123590 Crystallin, Alpha-B; Cryab 

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The "Did You Know..." entries above are derived from the Online Mendelian Inheritance in Man (OMIM) database, a continuously updated catalog of human genes and genetic disorders as authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. at the US National Institutes of Health.



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