Related Experiment Video
Updated: Sep 20, 2025

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological
Jorge A Bevilacqua1, Juan Pablo Contreras2, Alejandra Trangulao3
1Unidad Neuromuscular, Departamento Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago, Chile; Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile. Santiago, Chile; Unidad de Patología Neuromuscular, Departamento de Neurología y Neurocirugía, Clínica Dávila, Santiago, Chile.
Abstract:
Tropomyosin 3 (TPM3) gene mutations associate with autosomal dominant and recessive nemaline myopathy 1 (NEM1), congenital fiber type disproportion myopathy (CFTD) and cap myopathy (CAPM1), and a combination of caps and nemaline bodies. We report on a 47-year-old man with polyglobulia, restricted vital capacity and mild apnea hypopnea syndrome, requiring noninvasive ventilation. Physical assessment revealed bilateral ptosis and facial paresis, with high arched palate and retrognathia; global hypotonia and diffuse axial weakness, including neck and upper and lower limb girdle and foot dorsiflexion weakness. Whole body MRI showed a diffuse fatty replacement with an unspecific pattern. A 122 gene NGS neuromuscular disorders panel revealed the heterozygous VUS c.709G>A (p.Glu237Lys) on exon 8 of TMP3. A deltoid muscle biopsy showed a novel histological pattern combining fiber type disproportion and caps. Our findings support the pathogenicity of the novel TPM3 variant and widen the phenotypic gamut of TMP3-related congenital myopathy.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Incomplete Dominance
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
Pleiotropy
Pedigree Analysis
Animal Mitochondrial Genetics