A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation
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DOI: 10.1002/mgg3.2008
Abstract: Actin, alpha, skeletal muscle 1 (ACTA1) is one of the causative genes of nemaline myopathy (NM) and congenital fiber‐type disproportion (CFTD). CFTD is characterized by type 1 fiber atrophy and distinguished from NM in the… read more here.
Keywords: type disproportion; fiber type; congenital fiber; fiber ... See more keywords
Congenital fiber‐type disproportion presenting as ventricular fibrillation
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DOI: 10.1111/ped.13339
Abstract: being entirely supportive. It is important that it be diagnosed early, to manage and prevent complications as much as possible. Unfortunately, renal dysfunction in the present patient had not been detected early and had progressed… read more here.
Keywords: presenting ventricular; congenital fiber; disproportion presenting; fiber type ... See more keywords