Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygous

Anum, Xilong Li, Rebecca J Brown, Abhimanyu Garg

Abstract read

In one paragraph

Article in Journal of the Endocrine Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing 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

1 citing paper in PubMed.

Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome.Clinical endocrinology · 2025
Article

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

4 authors.

AnumThe Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX 75390-8537, USA.ORCID https://orcid.org/0009-0000-8663-6728

Xilong LiPeter O'Donnell Jr. School of Public Health, UT Southwestern Medical Center, Dallas, TX 75390-9066, USA.

Rebecca J BrownNational Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Abhimanyu GargThe Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX 75390-8537, USA.ORCID https://orcid.org/0000-0001-7209-6986

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Context: Specific heterozygous pathogenic variants in Objective: To report the overlapping phenotype of both FPLD2 and AD-EDMD in 5 families with heterozygous Methods: Clinical, anthropometric, laboratory, and genotyping data of affected subjects from 5 families with female probands presenting with FPLD2 and AD-EDMD phenotypes were collected. Results: Affected individuals (8 females, ages 18-57 years; 3 males, ages 25-41 years) harbored heterozygous p.T528R, p.R527P, p.R541P, or p.R453W Conclusion: Our report brings attention to the frequent co-occurrence of FPLD2 and AD-EDMD. In the future, all patients with AD-EDMD should be carefully evaluated for clinical signs of lipodystrophy and metabolic complications.

Indexed as

Dunnigan-typeEmery-Dreifuss muscular dystrophy type 2familial partial lipodystrophylamin A/CLMNA

Identifiers

PMID42555405

DOI10.1210/jendso/bvag128

PMCPMC13338774

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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.