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• W2080368215 abstract "We report a new form of congenital muscular dystrophy (CMD) in 4 patients from three unrelated families with probable autosomal-recessive inheritance. All patients had the clinical characteristics of merosin-positive 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." @default.
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• W2080368215 date "1998-01-01" @default.
• W2080368215 modified "2023-10-14" @default.
• W2080368215 title "A new congenital muscular dystrophy with mitochondrial structural abnormalities" @default.
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• W2080368215 doi "https://doi.org/10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g" @default.
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