A new congenital muscular dystrophy with mitochondrial structural abnormalities

✍ Scribed by Ichizo Nishino; Osamu Kobayashi; Yu-ichi Goto; Mana Kurihara; Komei Kumagai; Takehisa Fujita; Kiyoshi Hashimoto; Satoshi Horai; Ikuya Nonaka

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 625 KB
• Volume: 21
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g

✦ Synopsis

We report a new form of congenital muscular dystrophy (CMD) in 4 patients from three unrelated families with probable autosomalrecessive inheritance. All patients had the clinical characteristics of merosinpositive congenital muscular dystrophy, but had marked mental retardation. The disease was slowly progressive and 1 patient died from dilated cardiomyopathy at the age of 13 years. In addition to dystrophic changes with necrosis and regeneration in muscle, the most striking finding was mitochondrial depletion in the center of the sarcoplasm. Mitochondria at the periphery of fibers were markedly enlarged (''megaconial'' appearance) with complicated cristae, and contained a normal amount of mitochondrial DNA by in situ hybridization. Mitochondrial enlargement may represent functional compensation for mitochondrial depletion in the central sarcoplasm, where myofibrillar degeneration occurred.