Abstract:

We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals become wheelchair bound on average 12 years after onset of the disease. The clinical spectrum of DMRV seems to be wider than previously thought in terms of both the clinical course and the severity of the disease.

日本語要旨:

GNE遺伝子にc 302G>A (p R101H)及びc 617-4A>Gの複合ヘテロ接合型変異を有する縁取り空胞を伴う遠位型ミオパチー(DMRV)の日本人一家系を報告した。家系内の３人の患者はそれぞれ36, 34, 39歳でも依然として歩行可能であった。DRMVの臨床スペクトラムは従来考えられてたよりも幅広い可能性がある。