Evidence map›Paper›PMID 42453854›Full record

ArticleNeurology. Genetics2026

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Alison Gaynor, Dove Enicks, Katherine Karam, Lesly Turcios-Hernandez, Marina Provenzano, Christopher R Heier, Melissa A Hale, Nicholas E Johnson

Abstract read
In one paragraph

Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Alison GaynorCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0009-0001-4838-087X
Dove EnicksCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0000-0002-7925-0605
Katherine KaramCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0009-0007-1387-0653
Lesly Turcios-HernandezCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0009-0005-5047-2078
Marina ProvenzanoCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0009-0008-9781-1905
Christopher R HeierCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0000-0001-7914-2068
Melissa A HaleCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0009-0001-5850-3095
Nicholas E JohnsonCenter for Inherited Myology Research, Virginia Commonwealth University, Richmond; and.ORCID https://orcid.org/0000-0002-3917-4257

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive forms of limb-girdle muscular dystrophy are caused by biallelic loss of function variants. Haplosufficient carriers are hypothesized to have sufficient protein expression to maintain normal physical function. This study aims to determine relative protein expression in haplosufficient carriers of 3 subtypes of autosomal recessive LGMD: LGMDR1 (

Identifiers

PMID42453854
PMCPMC13366160

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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 OpenQuestion graph.