What is it about?
We describe the identification and verification of two unusual mutations in the tropomyosin-encoding gene TPM3 in a patient with nemaline myopathy, a muscle disorder present from birth. RNA sequencing was the method that eventually revealed the disease-causing properties of the mutations.
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Why is it important?
Mutations in TPM3 are a rare cause of nemaline myopathy and our findings expand the clinical picture and mutational spectrum of TPM3-related muscle disorders.
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This page is a summary of: Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report, Journal of Neuromuscular Diseases, September 2023, IOS Press,
DOI: 10.3233/jnd-230026.
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