Key result
Modern technologies like next-generation sequencing and proteomics are identifying new causative genes and pathomechanisms for myofibrillar myopathies, aiding molecular diagnosis and future therapies.
Advances in sequencing and proteomics are expanding the genetic and mechanistic understanding of myofibrillar myopathies, improving molecular diagnosis and highlighting targets for future therapies.
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May enhance molecular diagnosis of myofibrillar myopathies; leaves open therapeutic translation of new mechanisms.
Olivé et al. (2013) conducted a review in Myofibrillar myopathies. Modern technologies like next-generation sequencing and proteomics are identifying new causative genes and pathomechanisms for myofibrillar myopathies, aiding molecular diagnosis and future therapies.
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