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Results: 5

1.

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I.

Neuromuscul Disord. 2009 Jul;19(7):485-8. doi: 10.1016/j.nmd.2009.06.366. Epub 2009 Jun 23.

PMID:
19553121
[PubMed - indexed for MEDLINE]
2.

Skeletal muscle alpha-actin diseases.

North KN, Laing NG.

Adv Exp Med Biol. 2008;642:15-27.

PMID:
19181090
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

Ochala J.

J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24. Review.

PMID:
18574571
[PubMed - indexed for MEDLINE]
5.

Congenital myopathies: diseases of the actin cytoskeleton.

Clarkson E, Costa CF, Machesky LM.

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

PMID:
15495263
[PubMed - indexed for MEDLINE]

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