Similar articles for PMID: 25079567

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1

Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.

Piteau SJ, Rossiter JP, Smith RG, MacKenzie JJ. Piteau SJ, et al. Pediatr Neurol. 2014 Aug;51(2):192-7. doi: 10.1016/j.pediatrneurol.2014.04.002. Epub 2014 Apr 12. Pediatr Neurol. 2014. PMID: 25079567 Review.

2

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Malfatti E, Schaeffer U, Chapon F, Yang Y, Eymard B, Xu R, Laporte J, Romero NB. Malfatti E, et al. Neuromuscul Disord. 2013 Dec;23(12):992-7. doi: 10.1016/j.nmd.2013.07.003. Epub 2013 Oct 2. Neuromuscul Disord. 2013. PMID: 24095155

3

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Lawlor MW, et al. Hum Mutat. 2010 Feb;31(2):176-83. doi: 10.1002/humu.21157. Hum Mutat. 2010. PMID: 19953533 Free PMC article.

4

Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

Gajda A, Horváth E, Hortobágyi T, Gergev G, Szabó H, Farkas K, Nagy N, Széll M, Sztriha L. Gajda A, et al. J Child Neurol. 2015 Apr;30(5):627-30. doi: 10.1177/0883073813494476. Epub 2013 Sep 20. J Child Neurol. 2015. PMID: 24056153

5

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].

Bojdo A, Obersztyn E, Wallgren-Pettersson C, Lehtokari V, Laing N, Davis M, Kułakowska Z. Bojdo A, et al. Med Wieku Rozwoj. 2009 Jan-Mar;13(1):5-10. Med Wieku Rozwoj. 2009. PMID: 19648653 Polish.

6

Severe congenital actin related myopathy with myofibrillar myopathy features.

Selcen D. Selcen D. Neuromuscul Disord. 2015 Jun;25(6):488-92. doi: 10.1016/j.nmd.2015.04.002. Epub 2015 Apr 9. Neuromuscul Disord. 2015. PMID: 25913210

7

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

Ohlsson M, Tajsharghi H, Darin N, Kyllerman M, Oldfors A. Ohlsson M, et al. Neuromuscul Disord. 2004 Sep;14(8-9):471-5. doi: 10.1016/j.nmd.2004.05.016. Neuromuscul Disord. 2004. PMID: 15336687

8

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).

Seferian AM, Malfatti E, Bosson C, Pelletier L, Taytard J, Forin V, Gidaro T, Gargaun E, Carlier P, Fauré J, Romero NB, Rendu J, Servais L. Seferian AM, et al. Neuromuscul Disord. 2016 Oct;26(10):712-716. doi: 10.1016/j.nmd.2016.07.011. Epub 2016 Jul 29. Neuromuscul Disord. 2016. PMID: 27528495 Free article.

9

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Tajsharghi H, et al. Arch Neurol. 2007 Sep;64(9):1334-8. doi: 10.1001/archneur.64.9.1334. Arch Neurol. 2007. PMID: 17846275

10

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030. Biochem J. 2012. PMID: 22084935 Free article.

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