X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the FHL1 gene

Colleen Elizabeth D'Arcy, Voula Kanellakis, Robin Forbes, Brendan Wilding, Meagan Jane Mcgrath, Katherine B Howell, Monique M Ryan, Catriona Ann McLean

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10 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)1211 - 1217
Number of pages7
JournalJournal of Child Neurology
Issue number9
Publication statusPublished - 2015

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