Scapuloperoneal myopathy

Common Name(s)

Scapuloperoneal myopathy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Scapuloperoneal myopathy" returned 5 free, full-text research articles on human participants. First 3 results:

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
 

Author(s): Kristen Zukosky, Katherine Meilleur, Bryan J Traynor, Jahannaz Dastgir, Livija Medne, Marcella Devoto, James Collins, Jachinta Rooney, Yaqun Zou, Michele L Yang, J Raphael Gibbs, Markus Meier, Joerg Stetefeld, Richard S Finkel, Joachim Schessl, Lauren Elman, Kevin Felice, Toby A Ferguson, Ozge Ceyhan-Birsoy, Alan H Beggs, Gihan Tennekoon, Janel O Johnson, Carsten G Bönnemann

Journal: JAMA Neurol. 2015 Jun;72(6):689-98.

 

New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study was described in 1966 and now expands the phenotype of a known neuromuscular gene.

Last Updated: 9 Jun 2015

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A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
 

Author(s): Dong-Hui Chen, Wendy H Raskind, William W Parson, Joshua A Sonnen, Tiffany Vu, Yunlin Zheng, Mark Matsushita, John Wolff, Hillary Lipe, Thomas D Bird

Journal: J. Neurol. Sci.. 2010 Sep;296(1-2):22-9.

 

An X-linked myopathy was recently associated with mutations in the four-and-a-half-LIM domains 1 (FHL1) gene. We identified a family with late onset, slowly progressive weakness of scapuloperoneal muscles in three brothers and their mother. A novel missense mutation in the LIM2 domain ...

Last Updated: 4 Aug 2010

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X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
 

Author(s): Catarina M Quinzii, Tuan H Vu, K Christopher Min, Kurenai Tanji, Sandra Barral, Raji P Grewal, Andrea Kattah, Pilir Camaño, David Otaegui, Teruhito Kunimatsu, David M Blake, Kirk C Wilhelmsen, Lewis P Rowland, Arthur P Hays, Eduardo Bonilla, Michio Hirano

Journal: Am. J. Hum. Genet.. 2008 Jan;82(1):208-13.

 

Scapuloperoneal (SP) syndrome encompasses heterogeneous neuromuscular disorders characterized by weakness in the shoulder-girdle and peroneal muscles. In a large Italian-American pedigree with dominant SP myopathy (SPM) previously linked to chromosome 12q, we have mapped the disease ...

Last Updated: 8 Jan 2008

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Reviews from the PubMed Database

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The terms "Scapuloperoneal myopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.