An Autopsy Case of Dilated Cardiomyopathy Associated with Congenital Nemaline Myopathy
نویسندگان
چکیده
منابع مشابه
Nemaline myopathy with dilated cardiomyopathy in childhood.
We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient's cardiac f...
متن کاملNemaline Myopathy With Dilated Cardiomyopathy in Childhood abstract
We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient’s cardiac f...
متن کاملOn a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year l...
متن کاملA Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy
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 ...
متن کاملFatal neonatal nemaline myopathy: a case report.
A fatal neonatal nemaline myopathy in a Japanese girl was described. The patient was hypotonic at birth and failed to establish effective respiration. Rod-like structures were observed within a variety of skeletal muscles, particularly in the diaphragm. This is the first case of fatal neonatal nemaline myopathy in which many satellite cells were observed.
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 2008
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.97.413