X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. (August 2015)

• Record Type: Journal Article
• Authors: D'Arcy, Colleen; Kanellakis, Voula; Forbes, Robin; Wilding, Brendan; McGrath, Meagan; Howell, Katherine; Ryan, Monique; McLean, Catriona
• Is Part Of: Journal of child neurology. Volume 30:Number 9(2015:Aug.)
• Page Start: 1211
• Page End: 1217
• Publication Date: 2015-08
• Subjects: FHL1 mutation -- LIM domain -- muscular dystrophy -- distal myopathy -- hypertrophic cardiomyopathy; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073814549807
• Languages: English
• ISSNs: 0883-0738

Abstract

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. Echocardiogram revealed hypertrophic cardiomyopathy. Muscle biopsy showed a vacuolar pathology with no reducing bodies. Sequencing of FHL1 revealed a novel hemizygous c.764G>C missense mutation in exon 8. This is the first report of a predominantly distal myopathy with hypertrophic cardiomyopathy occurring secondary to an FHL1 mutation.