Key result
Missense mutations in the myotilin (MYOT) gene were detected in 6 of 57 patients (10.5%) with myofibrillar myopathy, establishing myotilinopathy as a cause of the disease.
Why the study?
Are mutations in myotilin a cause of myofibrillar myopathy?
Population
57 patients with myofibrillar myopathy (MFM)
Design
Case_series
Authors
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MYOT screening may be considered in myofibrillar myopathy; extends Z-disk myopathies but remains hypothesis-generating pending larger cohorts.
Observational (n=57)
Are mutations in myotilin a cause of myofibrillar myopathy?
Mutations in exon 2 of MYOT are a cause of myofibrillar myopathy, which can present with peripheral neuropathy, cardiomyopathy, and distal weakness.
Selcen et al. (2004) conducted an observational in Myofibrillar myopathy (n=57). Mutation analysis of myotilin (MYOT) gene was evaluated on Detection of mutations in myotilin. Missense mutations in the myotilin (MYOT) gene were detected in 6 of 57 patients (10.5%) with myofibrillar myopathy, establishing myotilinopathy as a cause of the disease.
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