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.
Perspectives
I enjoyed writing this article, we had finally been able to pinpoint the molecular genetic cause of nemaline myopathy in this patient. This case report strengthens the view that recessive mutations in TPM3 affect either the 5’ or the 3’ end of the skeletal muscle-specific transcript, and lead to reduced amounts of tropomyosin in the skeletal muscles.
Katarina Pelin
University of Helsinki
Read the Original
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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