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

Chen, Dong-Hui; Raskind, Wendy H.; Parson, William W.; Sonnen, Joshua A.; Vu, Tiffany; Zheng, YunLin; Matsushita, Mark; Wolff, John; Lipe, Hillary; Bird, Thomas D.

doi:10.1016/j.jns.2010.06.017

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Volume 296, Issue 1 , Pages 22-29, 15 September 2010

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

Dong-Hui Chen
- Department of Neurology, University of Washington, Seattle, WA, USA
Wendy H. Raskind
- Department of Medicine, University of Washington, Seattle, WA, USA
- Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
- Mental Illness Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
William W. Parson
- Department of Biochemistry, University of Washington, Seattle, WA, USA
Joshua A. Sonnen
- Department of Pathology, University of Washington, Seattle, WA, USA
Tiffany Vu
- Department of Medicine, University of Washington, Seattle, WA, USA
YunLin Zheng
- Department of Medicine, University of Washington, Seattle, WA, USA
Mark Matsushita
- Department of Medicine, University of Washington, Seattle, WA, USA
John Wolff
- Department of Medicine, University of Washington, Seattle, WA, USA
- Geriatrics Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
Hillary Lipe
- Department of Neurology, University of Washington, Seattle, WA, USA
- Geriatrics Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
Thomas D. Bird
- Department of Neurology, University of Washington, Seattle, WA, USA
- Department of Medicine, University of Washington, Seattle, WA, USA
- Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA
- Geriatrics Research Education and Clinical Center, Veterans Affairs Health Care System, Seattle, WA, USA
- Corresponding author. VA Puget Sound Health Care System, 1660 S Columbian Way, S-182-GRECC, Seattle, WA 98108, United States. Tel.: +1 206 277 1453; fax: +1 206 764 2569.