Abstract:

Mutations in the four-and-a-half LIM domains 1 gene (fhl1) are associated with various phenotypes of hereditary myopathies, including reducing body myopathy. We describe here a mother, daughter and son suffering from FHL1 myopathy with a mutation in the second LIM domain of fhl1. We investigated whether there is a characteristic muscle involvement in both sexes. Despite the variety of symptoms exhibited by the male and female patients, the systemic imaging studies showed a similar pattern: the flexor muscles of the brachium and thigh were affected earlier than the extensor muscle with a profound degeneration of the paraspinal muscles. These findings may include one of the characteristic clinical features for suspecting a mutation in the second LIM domain.

日本語要旨:

FHL1変異を有し母、娘、息子が発症している一家系で全身の画像解析を行い、罹患筋の分布を検討した。症状の強さには男女差が見られたものの、一致して上腕および大腿の屈筋群が伸筋群よりも早期に侵され、さらに、傍脊柱筋が強く変性していた。このような分布はFHL1変異に特徴的な所見である可能性がある。