Key result
The MYH7 p.K1617del mutation was identified as the cause of Laing early-onset distal myopathy in an Iranian family, demonstrating phenotypic heterogeneity in severity and age of onset.
Case Report (n=4)
This report identifies the first Iranian family with Laing early-onset distal myopathy caused by the MYH7 p.K1617del mutation, highlighting the phenotypic heterogeneity of the disorder.
Iranian MYH7 case plus prior reports expands known phenotypes; leaves open need for prospective natural history data.
Introduction: Laing early-onset distal myopathy is a disorder with autosomal dominant inheritance pattern caused by a mutation in the MYH7 gene that encodes the human -myosin heavy chain. Most previous studies reported this disorder with mild symptoms involving foot and hand fingers extensors as its early-onset and neck flexors as late-onset symptoms. In this study, the previously reported cases suffered from the same mutation are reviewed, too.
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Ghazanfari-Sarabi et al. (2019) conducted a case report in Laing early-onset distal myopathy (n=4). MYH7 p.K1617del mutation was evaluated on Genetic and clinical characterization. The MYH7 p.K1617del mutation was identified as the cause of Laing early-onset distal myopathy in an Iranian family, demonstrating phenotypic heterogeneity in severity and age of onset.
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