What question did this study set out to answer?

To investigate the characteristics of limb girdle muscular dystrophy related to TRIM32 variants in non-Hutterite individuals.

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April 10, 2026

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study

Resultado clave

TRIM32 variants associated with limb girdle muscular dystrophy type R8 are distributed across most protein domains and do not predict clinical severity.

Puntos clave

To investigate the characteristics of limb girdle muscular dystrophy related to TRIM32 variants in non-Hutterite individuals.
Analyzed a national cohort of patients with limb girdle muscular dystrophy.
Identified TRIM32 variants across different protein domains.
Assessed age of onset and clinical severity.
LGMDR8 is rare in non-Hutterite patients.
Age of onset varies significantly among individuals.
Variants did not correlate with the severity of clinical symptoms.

PICO estructurado

Población

Patients with Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants (LGMDR8)

Resultado

Clinical severity and age of onset

TRIM32 variants in LGMDR8 do not predict clinical severity, and the disease has a highly variable age of onset.

Resultado numérico

Tasa de eventos absoluta: 0% vs 0%

Resumen

LGMDR8 is very rare in non-Hutterite patients. Age of onset is highly variable. Variants are distributed across most protein domains and did not predict clinical severity.

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Discussion

Authors

Alexandre Guérémy

Hôpital de la Timone

Victor Morel

Hôpital de la Timone

T. Stojkovic

Sorbonne Université

Journals

Muscle & Nerve

Actions

Institutions

Centre National de la Recherche Scientifique

Inserm

Sorbonne Université

References and Citations

Connected Papers

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Discussion

Cite this study

Guérémy et al. (Mon,) reported a other. TRIM32 variants associated with limb girdle muscular dystrophy type R8 are distributed across most protein domains and do not predict clinical severity.

synapsesocial.com/papers/69d8940c6c1944d70ce04f56 — DOI: https://doi.org/10.1002/mus.70229

Also consider

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

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing· 2017 · 86 citations
Ragged Red Fibers in Normal Aging and Inflammatory Myopathy· 1995 · 153 citations
The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease· 2021 · 33 citations
Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci· 1997 · 16 citations
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology· 2015 · 32,002 citations

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study

Resultado clave

Puntos clave

PICO estructurado

Resultado numérico

Resumen

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

Cite this study

Also consider

Also consider