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Items: 1 to 20 of 101

1.

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, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.

Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013.

2.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M.

Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.

3.

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, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.

Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.

4.

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G.

Am J Hum Genet. 2009 Sep;85(3):338-53. doi: 10.1016/j.ajhg.2009.07.015. Epub 2009 Aug 27.

5.

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

Chen DH, Raskind WH, Parson WW, Sonnen JA, Vu T, Zheng Y, Matsushita M, Wolff J, Lipe H, Bird TD.

J Neurol Sci. 2010 Sep 15;296(1-2):22-9. doi: 10.1016/j.jns.2010.06.017. Epub 2010 Jul 14.

6.

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmüller H, Bushby K, Straub V.

Eur J Hum Genet. 2011 Oct;19(10):1038-44. doi: 10.1038/ejhg.2011.84. Epub 2011 Jun 1.

7.

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, Robertson SP.

Neurogenetics. 2013 May;14(2):113-21. doi: 10.1007/s10048-013-0359-8. Epub 2013 Mar 2.

PMID:
23456229
8.

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. 2015 Apr;58(4):222-9. doi: 10.1016/j.ejmg.2015.02.003. Epub 2015 Feb 25.

PMID:
25724586
9.

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.

D'Arcy C, Kanellakis V, Forbes R, Wilding B, McGrath M, Howell K, Ryan M, McLean C.

J Child Neurol. 2015 Aug;30(9):1211-7. doi: 10.1177/0883073814549807. Epub 2014 Sep 22.

PMID:
25246303
10.

Consequences of mutations within the C terminus of the FHL1 gene.

Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.

Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3.

PMID:
19687455
11.

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. 2011 Apr;21(4):237-51. doi: 10.1016/j.nmd.2011.01.001. Review.

PMID:
21310615
12.

Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.

Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):490-502. doi: 10.1161/CIRCGENETICS.111.962332. Epub 2012 Aug 25.

13.

Reducing body myopathy and other FHL1-related muscular disorders.

Schessl J, Feldkirchner S, Kubny C, Schoser B.

Semin Pediatr Neurol. 2011 Dec;18(4):257-63. doi: 10.1016/j.spen.2011.10.007. Review.

PMID:
22172421
14.

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.

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

Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1.

15.

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB.

J Neuropathol Exp Neurol. 2013 Sep;72(9):833-45. doi: 10.1097/NEN.0b013e3182a23506.

16.

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B.

Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi: 10.1002/ajmg.a.34230. Epub 2011 Sep 19.

PMID:
21932316
17.

Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.

Willis TA, Wood CL, Hudson J, Polvikoski T, Barresi R, Lochmüller H, Bushby K, Straub V.

Clin Genet. 2016 Aug;90(2):166-70. doi: 10.1111/cge.12695. Epub 2016 Jan 8.

PMID:
27409453
18.

Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.

San Román I, Navarro M, Martínez F, Albert L, Polo L, Guardiola J, García-Molina E, Muñoz-Esparza C, López-Ayala JM, Sabater-Molina M, Gimeno JR.

Clin Genet. 2016 Aug;90(2):171-6. doi: 10.1111/cge.12760. Epub 2016 Mar 23.

PMID:
26857240
19.

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG.

J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450.

20.

Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1.

Gossios TD, Lopes LR, Elliott PM.

Eur J Med Genet. 2013 May;56(5):251-5. doi: 10.1016/j.ejmg.2013.03.001. Epub 2013 Mar 14.

PMID:
23500067

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