Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
Mutations in the four-and-a-half LIM domain 1 (FHL1) gene, which encodes a 280-amino-acid protein containing four LIM domains and a single zinc-finger domain in the N-terminal region, have been associated with a broad clinical spectrum of X-linked muscle diseases encompassing a variety of different...
Main Authors: | Sarkozy, A, Windpassinger, C, Hudson, J, Dougan, C, Lecky, B, Hilton-Jones, D, Eagle, M, Charlton, R, Barresi, R, Lochmüller, H, Bushby, K, Straub, V |
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Format: | Journal article |
Language: | English |
Published: |
2011
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