ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2024
The
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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2 authors.
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Abstract
Objectives: Pathogenic TRIM32 gene variant was first described in 1976 in the Hutterite population of North America, presenting a phenotype of Limb-girdle muscular dystrophy R8 (LGMDR8, formerly termed LGMD2H). In recent years, different pathogenic mutations in this gene have been reported, with a spectrum of phenotypic heterogeneity, causing sarcotubular myopathy (STM), Bardet-Biedl Syndrome (BBS) and scapuloperoneal dystrophy. The genotype-phenotype correlation of this disease has been poorly reported. Methods: Here, we perform a literature review to analyze the genotype-phenotype correlation of the pathogenic variants in the TRIM32 gene. We also describe the clinical progression of two cases of STM in two patients presenting the D487N mutation in the TRIM32 gene. Results: We define the variety of LGMDR8 phenotypes associated with the identified TRIM32 variants so far. Conclusions: TRIM32 mutations are responsible for a broad spectrum of clinical phenotypes.
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