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