The FHL1 gene is located on chromosome Xq26.3. Mutations in this gene have been linked to several X-linked recessive and dominant inherited myopathies and muscular dystrophies. FHL1 encodes the four-and-a-half LIM domains 1 protein (OMIM 300163) which contains a double zinc finger motif and plays a role in protein-protein interaction and cytoskeletal organisation. Here we report 2 patients with mutations in the FHL1 gene that to our knowledge have not been described before. Whole exome sequencing (WES) and data processing were performed by genomics platform at the broad institute of Harvard and MIT.

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