Evidence map›Paper›PMID 40900223›Full record

ArticleAnnals of Indian Academy of Neurology2025

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.

Jayaram Saibaba, Saranya B Gomathy, Santhakumar Senthilvelan, Ramkumar Sugumaran, Sunil K Narayan

Abstract read
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In one paragraph

Article in Annals of Indian Academy of Neurology, 2025. 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

5 authors.

Jayaram SaibabaDepartment of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Saranya B GomathyDepartment of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Santhakumar SenthilvelanDepartment of Radiodiagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Ramkumar SugumaranDepartment of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Sunil K NarayanDepartment of Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

abstractBethlem myopathy (BM) represents the milder phenotype of collagen type VI-related myopathies. We report a young male with a striking family history who presented with progressive proximal myopathy, distal joint contractures, and a unique presentation of calf hypertrophy who tested positive for a novel genetic variant in the COL6A1 gene.

Indexed as

Bethlem myopathytarget signType VI collagen

Identifiers

PMID40900223
PMCPMC12611048

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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 OpenQuestion graph.