1 | FHL1, XMPMA
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| A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
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| Pen AE, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H, Andersen H, Ulhøi BP, Østergaard JR, Væth S, Sommerlund M, de Brouwer AP, Zhang X, Jensen UB.
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| Eur J Med Genet ur J Med Genet. 2015 Feb 25. pii: S1769-7212(15)00035-X. doi: 10.1016/j.ejmg.2015.02.003. [Epub ahead of print]
2015
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2 | FHL1, XMPMA
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| A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles.
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| Fujii T, Hayashi S, Kawamura N, Higuchi MA, Tsugawa J, Ohyagi Y, Hayashi YK, Nishino I, Kira J.
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| J Neurol Sci 343(1-2):206-10. doi: 10.1016/j.jns.2014.05.056. Epub 2014 Jun 2.
2014
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3 | FHL1, SPM1, XMPMA
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| Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
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| Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ.
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| Neuromuscul Disord 21(4):237-51. Review. 2011
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4 | FHL1, XMPMA
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| Novel FHL1 mutations in fatal and benign reducing body myopathy.
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| Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I.
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| Neurology 72(4):375-6. No abstract available.
2009
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5 | XMPMA, FHL1
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| An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1.
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| Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Lscher WN, Wagner K, Lochmller H, Vincent JB, Quasthoff S.
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| Am J Hum Genet 82(1):88-99. 2008
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6 | FHL1, XMPMA
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| X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
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| Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camao P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.
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| Am J Hum Genet 82(1):208-13. 2008
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