id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_6fmxppcvcrd2xlbjmj2hlbluna	Justine Géraud	Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy	2020.0	7	.pdf	application/pdf	6048	1167	71	muscle biopsy performed at 15 months revealed a clear disproportion in fibre size, with type I fibres consistently smaller than deletion of exons 8–9 of the TNNT1 gene (figure 2). Analysis of the skeletal muscle transcripts of TNNT1 showed addition, the study of TNNT1 transcripts from muscle biopsy Figure 2 Homozygous deletion of exons 8–9 of the TNNT1 gene. homozygous deletion of exons 8 and 9 of the TNNT1 gene. Glu112 in exon 9 of the TNNT1 gene, associated in the other *6 cases genotyped out of 71 patients with the Amish nemaline myopathy clinical phenotype. mutations of slow skeletal muscle troponin T found in NonAmish TNNT1 nemaline Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy	./cache/work_6fmxppcvcrd2xlbjmj2hlbluna.pdf	./txt/work_6fmxppcvcrd2xlbjmj2hlbluna.txt