Wilding BR, McGrath MJ, Bonne G, Mitchell CA

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.

J Cell Sci 127:2269-81 (2014)
DOI:10.1242/jcs.140905

Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR

Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature  Cardiac Death.

Circ Cardiovasc Genet 9:130-5 (2016)
DOI:10.1161/CIRCGENETICS.115.001193