X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

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 to Xq26, and, in...

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Bibliografische gegevens
Hoofdauteurs: Quinzii, Catarina M., Vu, Tuan H., Min, K. Christopher, Tanji, Kurenai, Barral, Sandra, Grewal, Raji P., Kattah, Andrea, Camaño, Pilir, Otaegui, David, Kunimatsu, Teruhito, Blake, David M., Wilhelmsen, Kirk C., Rowland, Lewis P., Hays, Arthur P., Bonilla, Eduardo, Hirano, Michio
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2008
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2253963/
https://ncbi.nlm.nih.gov/pubmed/18179901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.09.013
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