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Items: 6

1.

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB.

Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28.

2.

Congenital myopathies.

Romero NB, Clarke NF.

Handb Clin Neurol. 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. Review.

PMID:
23622357
3.

Congenital myopathies: diseases of the actin cytoskeleton.

Clarkson E, Costa CF, Machesky LM.

J Pathol. 2004 Nov;204(4):407-17. Review.

PMID:
15495263
4.

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ, Marston S.

Neuromuscul Disord. 2009 Jan;19(1):6-16. doi: 10.1016/j.nmd.2008.09.005. Epub 2008 Oct 30. Review.

PMID:
18976909
5.

Congenital myopathies.

Laing NG.

Curr Opin Neurol. 2007 Oct;20(5):583-9. Review.

PMID:
17885449
6.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

PMID:
18055494

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