A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

@inproceedings{Malfatti2015APS,
  title={A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy},
  author={Edoardo Malfatti and Johann Boehm and Emmanuelle Lac{\`e}ne and Maud Beuvin and Guy Brochier and Norma Beatriz Romero and Jocelyn Laporte},
  booktitle={Journal of neuromuscular diseases},
  year={2015}
}
BACKGROUND Nemaline myopathies (NM) are rare and severe muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Although ten genes have been implicated in the etiology of NM, an important number of patients remain without a molecular diagnosis. OBJECTIVE Here we describe the clinical and histopathological features of a sporadic case presenting with severe NM and cardiomyopathy. Using exome sequencing, we aimed to identify the causative gene. RESULTS We… CONTINUE READING
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