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A new congenital muscular dystrophy with mitochondrial structural abnormalities
Author(s) -
Nishino Ichizo,
Kobayashi Osamu,
Goto Yuichi,
Kurihara Mana,
Kumagai Komei,
Fujita Takehisa,
Hashimoto Kiyoshi,
Horai Satoshi,
aka Ikuya
Publication year - 1998
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g
Subject(s) - sarcoplasm , muscular dystrophy , mitochondrial dna , mitochondrial myopathy , myofibril , degeneration (medical) , congenital muscular dystrophy , cardiomyopathy , mitochondrion , pathology , mitochondrial disease , medicine , biology , dystrophy , anatomy , genetics , gene , heart failure , endoplasmic reticulum
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. © 1998 John Wiley & Sons, Inc. Muscle Nerve, 21: 40–47, 1998.