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March 20, 2013BMC NeurologyOpen Access

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

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Population

7 members of a U.S. family with skeletal muscle weakness and respiratory failure, plus 45 unrelated probands…

Design

Case_series

Authors

CTCamilo ToroMOMontse OlivéMDMarinos C. Dalakas

Discussion

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Overview

Supports TTN testing in suspected HMERF; extends mutation spectrum across ethnicities yet leaves validation to larger studies.

Structured PICO

P
Population
7 members of a U.S. family with skeletal muscle weakness and respiratory failure, plus 45 unrelated probands with similar phenotypes (predominantly proximal weakness, respiratory failure and/or cardiomyopathy).
I
Intervention
Whole exome sequencing and targeted mutation screening
O
Outcome
Identification of genetic mutations causing hereditary myopathy with early respiratory failure (HMERF)

Missense mutations in the titin (TTN) gene, specifically in the fibronectin type III element of the A-band, are confirmed as a cause of hereditary myopathy with early respiratory failure across diverse ethnic populations.

Cite This Study

Toro et al. (2013) studied this question.

synapsesocial.com/papers/6a99356f3e4cc22aad748830https://doi.org/10.1186/1471-2377-13-29
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