December 12, 2013Molecular Genetics & Genomic MedicineOpen Access

Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree

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Population

1 patient from a Dutch pedigree with Nemaline myopathy

Design

Case_report

Authors

WPW. Ludo van der PolUtrecht University JLJolien F. LeijenaarAmsterdam Neuroscience WSWim G.M. SplietHôpital Necker-Enfants Malades

Discussion

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Implication

Extends TNNT1 NM beyond Amish populations; leaves open broader diagnostic implications pending larger cohorts.

Structured PICO

Population

1 patient from a Dutch pedigree with Nemaline myopathy (compound heterozygous for a c.309+1G>A mutation and an exon 14 deletion in the TNNT1 gene)

This report documents two new TNNT1 mutations causing Nemaline myopathy outside the old order Amish population, confirming its specific clinical phenotype.

Cite This Study

Pol et al. (2013) studied this question.

synapsesocial.com/papers/6a7606db67b8a7e54870776a https://doi.org/10.1002/mgg3.52

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Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider