June 20, 2011Skeletal MuscleOpen Access

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

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Population

2 siblings with severe nemaline myopathy (NM), arthrogryposis, and neonatal death

Design

Case_series

Authors

MLMichael W. LawlorHeart Failure / Cardiomyopathy COCoen A. C. OttenheijmHeart Failure & Transplant VLVilma‐Lotta LehtokariUniversity of Helsinki

Discussion

Member takes

Implication

Extends NEB mutational spectrum in severe NM; hypothesis-generating for force mechanisms and targeted therapies.

Structured PICO

Population

2 siblings with severe nemaline myopathy (NM), arthrogryposis, and neonatal death

Comparator

Normal control muscle biopsies or biopsies from patients with less severe NM due to deletion of NEB exon 55

Outcome

Levels of detectable nebulin protein and mechanical force development of skinned myofiberssurrogate

Severe nemaline myopathy can be caused by novel NEB mutations that severely reduce nebulin protein levels, leading to markedly impaired muscle force generation.

Cite This Study

Lawlor et al. (2011) studied this question.

synapsesocial.com/papers/6a90fc7cf61bbdbd5ac1adb5 https://doi.org/10.1186/2044-5040-1-23

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Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider