id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_o7pyxltowzd5zh4w43vz6t6wcq	W. Ludo van der Pol	Nemaline myopathy caused byTNNT1mutations in a Dutch pedigree	2013.0	4	.pdf	application/pdf	2216	207	63	Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree Here, we report a patient who is compound heterozygous for a c.309+1G>A mutation and an exon 14 deletion in the TNNT1 gene. This report confirms the specific clinical phenotype of TNNT1 NM and documents two new TNNT1 mutations outside the old order Amish. c.309+1G>A mutation leads to TNNT1 mRNA exon 8 skipping. (C) Schematic presentation of inferred effects on TNNT1 protein composition of the c.309G>A and exon 14 deletion mutations described in this Nemaline Myopathy Caused by TNNT1 Mutations Nemaline Myopathy Caused by TNNT1 Mutations mutation in exon 11 of TNNT1 (Fig. 2C). myopathy in the Amish caused by a mutation in troponin Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Nemaline Myopathy Caused by TNNT1 Mutations W. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Nemaline Myopathy Caused by TNNT1 Mutations W.	./cache/work_o7pyxltowzd5zh4w43vz6t6wcq.pdf	./txt/work_o7pyxltowzd5zh4w43vz6t6wcq.txt