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

Abstract excerpt

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....

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