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Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseases
Author(s) -
Kawai Hisaomi,
Akaike Masashi,
Yokoi Kenji,
Nishida Yoshihiko,
Kunishige Makoto,
Mine Hideki,
Saito Shiro
Publication year - 1995
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/mus.880180712
Subject(s) - external ophthalmoplegia , mitochondrial encephalomyopathy , mitochondrial dna , chronic progressive external ophthalmoplegia , ataxia , genetics , biology , mitochondrial myopathy , atrophy , mitochondrial encephalomyopathies , kearns–sayre syndrome , mitochondrial disease , gene , neuroscience
We report a Japanese family with chronic progressive external ophthal‐moplegia (CPEO) with autosomal dominant inheritance, and review 54 reported CPEO patients in seven families (including the present family) with autosomal dominant inheritance and mtDNA deletions in the skeletal muscle. Mean age at onset in the CPEO was 26 years, which is older than that in published solitary cases. In addition to blepharoptosis and external ophthalmoplegia, proximal muscle atrophy and weakness were found in 62%, hearing loss in 25%, and ataxia in 17% of the patients. Retinal degeneration was not found, and cardiac involvement was very rare. mtDNA deletions in the muscle were multiple and large scale, and all such deletions were located in the non–D‐loop region. Autosomal dominant CPEO has unique clinical features which differ from those of solitary CPEO, and is associated with multiple large‐scale mtDNA deletions. Thus, autosomal dominant CPEO can be considered a clinical and genetic entity of mitochondrial diseases. © 1995 John Wiley & Sons, Inc.