Article
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
Journal of child neurology - 1 Aug 2015
D'Arcy Colleen, Kanellakis Voula, Forbes Robin, Wilding Brendan, McGrath Meagan, Howell Katherine, Ryan Monique, McLean Catriona
Abstract excerpt
FHL1 gene mutations are associated with reducing body myopathy, X-linked myopathy with postural muscle atrophy, scapuloperoneal myopathy, Emery-Dreifuss muscular dystrophy, and isolated hypertrophic cardiomyopathy. We describe a boy with a family history consistent with X-linked distal myopathy/cardiomyopathy. The boy first presented at age 14 years and was found to have distal wasting and weakness....
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