November 27, 2014Muscle & Nerve

Identification of a novel nemaline myopathy‐Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish

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Population

1 Hispanic male diagnosed with nemaline myopathy histopathologically

Design

Case_report

Authors

JMJonathan MarraNovartis (France)KEKristin E. EngelstadColumbia University Irving Medical Center AAArunkanth AnkalaEmory University

Discussion

Member takes

Implication

Expands TNNT1 nemaline myopathy spectrum beyond Amish/Dutch ancestry; hypothesis-generating for broader diagnostic panels.

Structured PICO

Population

1 Hispanic male diagnosed with nemaline myopathy histopathologically

Outcome

Identification of genetic variant causing nemaline myopathy

This case report identifies a novel nemaline myopathy-causing variant in the TNNT1 gene in a patient outside of the Old Order Amish and Dutch ancestry.

Cite This Study

Marra et al. (2014) studied this question.

synapsesocial.com/papers/6a7606db67b8a7e548707769 https://doi.org/10.1002/mus.24528

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Identification of a novel nemaline myopathy‐Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Identification of a novel nemaline myopathy‐Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider