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Novel TPM3 mutations causing nemaline myopathy

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.

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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Katarina Pelin
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