Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child
Author:
Funder
NHLBI
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference27 articles.
1. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1);Abdulhaq;Muscle Nerve,2016
2. Functional basis of three new recessive mutations of slow skeletal muscle troponin T found in non-amish TNNT1 nemaline myopathies;Amarasinghe;Biochemistry,2016
3. Isolation and characterization of the human cardiac troponin I gene (TNNI3);Bhavsar;Genomics,1996
4. Detection of clinically relevant exonic copy-number changes by array CGH;Boone;Hum. Mutat.,2010
5. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy;Carballo;Circ. Res.,2009
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