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Condition: Cardiomyopathy
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BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age
We report the case of a 16-year-old male who at 4 years of age presented with a hypertrophic obstructive cardiomyopathy, then developed axonal sensory motor polyneuropathy, muscle weakness, rigid spine, severe kyphoscoliosis and respiratory failure. Muscle biopsy showed the typical hallmark of myofibrillar myopathy with abnormal cytoplasmic expression of multiple proteins. Ade novo heterozygous common mutation in the BAG3 gene with a c.626C > T (p.Pro209Leu) was discovered on NGS genetic analysis. Mutations in the BAG3 gene are causes of a severe and progressive condition and natural history data are important to be col...
Source: Acta Myologica - January 20, 2022 Category: Neurology Authors: Gaia Scarpini Maria Lucia Valentino Melania Giannotta Luca Ragni Annalaura Torella Marta Columbaro Vincenzo Nigro Antonella Pini Source Type: research
