Myotilinopathy

Common Name(s)

Myotilinopathy

Myotilinopathy is a form of myofibrillar myopathy. Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc.
 

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Condition Specific Organizations

Following organizations serve the condition "Myotilinopathy" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Myotilinopathy" returned 4 free, full-text research articles on human participants. First 3 results:

Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
 

Author(s): Pernilla von Nandelstadh, Rabah Soliymani, Marc Baumann, Olli Carpen

Journal: Biochem. J.. 2011 May;436(1):113-21.

 

MFM (myofibrillar myopathies) are caused by mutations in several sarcomeric components, including the Z-disc protein myotilin. The morphological changes typical of MFM include Z-disc alterations and aggregation of dense filamentous sarcomeric material. The causes and mechanisms of ...

Last Updated: 28 Apr 2011

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Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
 

Author(s): Josep Gamez, Judith Armstrong, Alexey Shatunov, Albert Selva-O'Callaghan, Rosa Dominguez-Oronoz, Arantxa Ortega, Lev Goldfarb, Isidre Ferrer, Montse Olivé

Journal: J. Neurol. Sci.. 2009 Feb;277(1-2):167-71.

 

Myotilinopathies are a group of muscle disorders caused by mutations in the MYOT gene. It was first described in two families suffering from limb girdle muscle dystrophy type 1 (LGMD 1A), and later identified in a subset of dominant or sporadic patients suffering from myofibrillar ...

Last Updated: 16 Jan 2009

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Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy.
 

Author(s): Marta Barrachina, Jesús Moreno, Salvador Juvés, Dolores Moreno, Montse Olivé, Isidre Ferrer

Journal: Am. J. Pathol.. 2007 Oct;171(4):1312-23.

 

Myotilinopathy is a subgroup of myofibrillar myopathies caused by mutations in the myotilin gene in which there is aggregation of abnormal cytoskeletal proteins and ubiquitin. We report here on the accumulation of neuron-related proteins such as ubiquitin carboxy-terminal hydrolase ...

Last Updated: 27 Sep 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Myotilinopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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