Key result
A homozygous nonsense mutation in the last exon of MYO18B was identified as the causative gene in a sporadic case of severe nemaline myopathy with cardiomyopathy.
Population
A sporadic case presenting with severe nemaline myopathy (NM) and cardiomyopathy (n=1)
Design
Case_report
Authors
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Broadens genetic causes of nemaline myopathy with cardiomyopathy; leaves open validation in larger cohorts.
Case Report (n=1)
Identifies a homozygous nonsense mutation in MYO18B as a novel genetic cause of severe nemaline myopathy with cardiomyopathy.
Malfatti et al. (2015) conducted a case report in Nemaline myopathy with cardiomyopathy (n=1). MYO18B homozygous nonsense mutation was evaluated on Identification of causative gene. A homozygous nonsense mutation in the last exon of MYO18B was identified as the causative gene in a sporadic case of severe nemaline myopathy with cardiomyopathy.
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