| Geno
|
Mag
|
Summary
|
| (G;G)
|
4
|
Nemaline Myopathy 1
|
| (G;T)
|
2
|
Nemaline Myopathy 1
|
| (T;T)
|
0
|
common in clinvar
|
[PMID 7663526] A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.
[PMID 7704029] A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
[PMID 10587521
] A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.
[PMID 15562513] An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
[PMID 11106625] Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.
[PMID 11964245] Tropomyosin requires an intact N-terminal coiled coil to interact with tropomodulin.
[PMID 12163017] 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.
[PMID 18716557] Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.
] A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.
