ArticleJournal of neuromuscular diseases2025
A homozygous single-nucleotide variant in
Article in Journal of neuromuscular diseases, 2025. 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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Abstract
backgroundSlow skeletal troponin T (ssTnT,
objectiveTo identify and further investigate the disease-causing variant in a patient with lethal NM.
methodsThe genetic analyses included a gene panel, Sanger sequencing, whole-exome sequencing, and targeted array-CGH. Muscle biopsy was analyzed using routine histopathological methods. The alternative splicing of
resultsThe patient presented with arthrogryposis, stiffness, respiratory insufficiency, and minimal spontaneous movements. Histopathology showed hypotrophy and predominance of type II fibers, perimysial connective tissue accumulation, and nemaline bodies. The patient was homozygous for the
conclusionsThe c.653C > G variant was shown to alter
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