A mutation in the alpha tropomyosin gene TPM3 asso...[Nat Genet. 1995] - PubMed Result

SearchDatabase nameforSearch term

Advanced Search

Your browser version may not work well with NCBI's Web applications. More information here...

Display Show

All: 1

Review: 0

Click to change filter selection through MyNCBI.

1: Nat Genet. 1995 Jun;10(2):249. Links

Erratum for:: Nat Genet. 1995 Jan;9(1):75-9.

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.

Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al.

PMID: 7663526 [PubMed - indexed for MEDLINE]

Related articles

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Nat Genet. 1995 Jan; 9(1):75-9.

[Nat Genet. 1995]
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.
Neuromuscul Disord. 1999 Dec; 9(8):573-9.

[Neuromuscul Disord. 1999]
Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy.
Biochem Biophys Res Commun. 2002 Aug 16; 296(2):300-4.

[Biochem Biophys Res Commun. 2002]
ReviewPhysiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies.
J Mol Med. 2000; 78(10):543-53.

[J Mol Med. 2000]
ReviewCongenital myopathies: diseases of the actin cytoskeleton.
J Pathol. 2004 Nov; 204(4):407-17.

[J Pathol. 2004]
» See reviews... | » See all...

Cited by 2 PubMed Central articles

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.
Ochala J, Li M, Ohlsson M, Oldfors A, Larsson L. J Physiol. 2008 Jun 15; 586(Pt 12):2993-3004. Epub 2008 Apr 17.

[J Physiol. 2008]
Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period.
Crawford K, Flick R, Close L, Shelly D, Paul R, Bove K, Kumar A, Lessard J. Mol Cell Biol. 2002 Aug; 22(16):5887-96.

[Mol Cell Biol. 2002]

Recent Activity

Clear Turn Off Turn On

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline ...A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Display Show