Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial dna np8291 a-to-g substitution

ABSTRACT We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2

men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-red fibers and cytochrome c oxidase-defective fibers.

Analysis of muscle biopsy specimens indicated that cytochrome c oxidase activity was decreased relative to that of citrate synthase in 5 of the 7 patients. Southern blotting and direct

sequence analyses showed an A-to-G homoplasmic transition at np8291 and intergenic COII/tRNA(Lys) 9bp deletion in all patients. This substitution was detected in only 2 of 600 control

individuals including healthy subjects and patients with other neuromuscular disorders; these 2 individuals had diabetes mellitus and myotonic dystrophy, respectively. Consequently, the

mtDNA transition at np8291 was a rare polymorphism. However, the 7 patients we studied had identical clinical, pathological, biochemical, and genetic features. Therefore, limb-girdle type

mitochondrial myopathy with this rare polymorphism may form a subgroup of adult onset mitochondrial myopathy. SIMILAR CONTENT BEING VIEWED BY OTHERS SEVERE CARDIAC INVOLVEMENT WITH PRESERVED

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Article Open access 05 September 2022 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, 8-35-1

Sakuragaoka, Kagoshima 890, Japan Tel. +81-99-275-5332; Fax +81-99-265-7164 e-mail: [email protected], Japan Keiko Hirata, M. Nakagawa, Itsuro Higuchi, Kenichiro

Hashimoto, Kouichi Hanada, Takahito Niiyama, Koutarou Izumi, Shunichi Sakoda, Hirohisa Yamada & Mitsuhiro Osame * Department of Neurology, National Sanatorium Okinawa Hospital, Okinawa,

Japan, Japan Keiko Hirata * Department of Neurology, Hokusatsu Hospital, Kagoshima, Japan, Japan Kouichi Takahashi Authors * Keiko Hirata View author publications You can also search for

this author inPubMed Google Scholar * M. Nakagawa View author publications You can also search for this author inPubMed Google Scholar * Itsuro Higuchi View author publications You can also

search for this author inPubMed Google Scholar * Kenichiro Hashimoto View author publications You can also search for this author inPubMed Google Scholar * Kouichi Hanada View author

publications You can also search for this author inPubMed Google Scholar * Kouichi Takahashi View author publications You can also search for this author inPubMed Google Scholar * Takahito

Niiyama View author publications You can also search for this author inPubMed Google Scholar * Koutarou Izumi View author publications You can also search for this author inPubMed Google

Scholar * Shunichi Sakoda View author publications You can also search for this author inPubMed Google Scholar * Hirohisa Yamada View author publications You can also search for this author

inPubMed Google Scholar * Mitsuhiro Osame View author publications You can also search for this author inPubMed Google Scholar ADDITIONAL INFORMATION Received: December 3, 1998 / Accepted:

February 18, 1999 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Hirata, K., Nakagawa, M., Higuchi, I. _et al._ Adult onset limb-girdle type

mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution. _J Hum Genet_ 44, 210–214 (1999). https://doi.org/10.1007/s100380050145 Download citation * Published: 01 May 1999

* Issue Date: May 1999 * DOI: https://doi.org/10.1007/s100380050145 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry,

a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words Adult onset * Limb-girdle type

* Mitochondrial myopathy * Familial * Mitochondrial DNA * np8291 A-to-G substitution