Key result
A 67-year-old Japanese man was diagnosed with the first reported case of Laing type distal myopathy in Japan, caused by a heterozygous mutation (c.5566G>A, p.E1856K) in the MYH7 gene.
Case Report (n=1)
This case report identifies the first instance of Laing-type distal myopathy caused by an MYH7 gene mutation in the Japanese population.
May prompt MYH7 testing in Japanese distal myopathy cases; extends known geographic distribution of this rare entity.
A 67-year-old man developed weakness and atrophy of the anterior compartment of the lower leg at age 53 years, followed by weakness of proximal muscles of the upper limb. His father had difficulties in walking in his thirties and died of heart disease at age 45 years. He also had mild respiratory weakness without cardiac involvement. Muscle histology showed spheroid or cytoplasmic bodies-like inclusions with moth-eaten appearance and irregular intramyofibrillar network. Electron microscopy revealed abnormally thickened and disorganized Z lines (Z line streaming) between the surrounding myofibrils and electron-dense globular deposits. These pathological findings apparently suggested myofibrillar myopathy. However, genetic analysis revealed a mutation (c.5566G>A, p.E1856K) in MYH7 gene, that is responsible for Laing-type distal myopathy (LDM). This mutation was previously reported in a study from Austria. This is the first report of LDM in the Japanese population .
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Hara et al. (2019) conducted a case report in Laing type distal myopathy (n=1). MYH7 gene mutation (c.5566G>A, p.E1856K) was evaluated. A 67-year-old Japanese man was diagnosed with the first reported case of Laing type distal myopathy in Japan, caused by a heterozygous mutation (c.5566G>A, p.E1856K) in the MYH7 gene.
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