Evidence map›Paper›PMID 39501809›Full record

ReviewDisease models & mechanisms2024

Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.

Andrew R Findlay

Abstract readReview
In one paragraph

Review in Disease models & mechanisms, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author.

Andrew R FindlayWashington University Saint Louis, Neuromuscular Disease Center, 660 S. Euclid Ave., St Louis, MO 63110, USA.ORCID 0000-0002-8728-9833

Funding

Allele Specific Knockdown for LGMDD1R01NS134506 · NINDS · WASHINGTON UNIVERSITY · PI Andrew Findlay · 2024 to 2026
$1.6M
The Role of DNAJB6 in Muscle and the Impact of LGMD1D MutationsK08AR075894 · NIAMS · WASHINGTON UNIVERSITY · PI FINDLAY, ANDREW · 2019 to 2023
$696k
American Society of Gene and Cell TherapyCure HSPB8LGMD 1D DNAJB6 Foundation and International RegistryNIAMS NIH HHS K08 AR075894NIAMS NIH HHS K08AR075894NINDS NIH HHS R01 NS134506NINDS NIH HHS R01NS134506St. Louis Children's Hospital MIFR20221004
6 · The paper itself

Abstract

Treatments for disabling and life-threatening hereditary muscle disorders are finally close to becoming a reality. Research has thus far focused primarily on recessive forms of muscle disease. The gene replacement strategies that are commonly employed for recessive, loss-of-function disorders are not readily translatable to most dominant myopathies owing to the presence of a normal chromosome in each nucleus, hindering the development of novel treatments for these dominant disorders. This is largely due to their complex, heterogeneous disease mechanisms that require unique therapeutic approaches. However, as viral and RNA interference-based therapies enter clinical use, key tools are now in place to develop treatments for dominantly inherited disorders of muscle. This article will review what is known about dominantly inherited disorders of muscle, specifically their genetic basis, how mutations lead to disease, and the pathomechanistic implications for therapeutic approaches.

Indexed as

Genes, DominantMuscular DiseasesMutationAnimalsHumansDominant disease mechanismsDominant inheritanceMuscular dystrophyMyopathy

Identifiers

PMID39501809
PMCPMC11574355

What Socratic holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.