Article
The structural basis of alpha-tropomyosin linked (Asp230Asn) familial dilated cardiomyopathy.
Journal of molecular and cellular cardiology - 1 Jul 2017
Lynn M L, Tal Grinspan L, Holeman T A, Jimenez J, Strom J, Tardiff J C
Abstract excerpt
Recently, linkage analysis of two large unrelated multigenerational families identified a novel dilated cardiomyopathy (DCM)-linked mutation in the gene coding for alpha-tropomyosin (TPM1) resulting in the substitution of an aspartic acid for an asparagine (at residue 230). To determine how a single amino acid mutation in α-tropomyosin (Tm) can lead to a highly penetrant DCM we generated a novel transgenic mouse...
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