Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
April 4, 2009Human Molecular GeneticsOpen Access

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

View Full Paper
Ask AI
Bookmark
Share

Population

Nemaline myopathy (NM) patients with a well-defined nebulin mutation (NM-NEB)

Design

Other

Authors

COCoen A. C. OttenheijmHeart Failure & TransplantCWChristian WittUniversity of VermontGSGer J.M. StienenHeart Failure & Transplant

Discussion

Loading...

Member takes

Implication

Shorter thin filaments may underlie weakness in NM-NEB; leaves open therapeutic targeting pending validation.

Structured PICO

P
Population
Nemaline myopathy (NM) patients with a well-defined nebulin mutation (NM-NEB)
C
Comparator
Control muscle
O
Outcome
Thin filament length and muscle contractile performance (force generating capacity)surrogate

Dysregulated, shorter thin filament length contributes to muscle weakness in nemaline myopathy patients with nebulin mutations.

Cite This Study

Ottenheijm et al. (2009) studied this question.

synapsesocial.com/papers/6a75747ef2cd31a1fadc12ffhttps://doi.org/10.1093/hmg/ddp168
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy1999 · 338 citations
  2. 2Human Skeletal Muscle Nebulin Sequence Encodes a Blueprint for Thin Filament Architecture1996 · 132 citations
  3. 3Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.1997 · 171 citations
  4. 4Quadriceps weakness in a family with nemaline myopathy: influence of knee angle2003 · 14 citations
  5. 5Interplay between passive tension and strong and weak binding cross-bridges in insect indirect flight muscle. A functional dissection by gelsolin-mediated thin filament removal.1993 · 94 citations