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ERİŞKİN BAfiLANGIÇLI SAF MİTOKONDRİYAL MYOPATİ OLGUSU

A CASE OF ADULT ONSET PURE MITOCHONDRIAL MYOPATHY

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2005

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Mitochondriopathies (MCPs) are a group of disorders that are caused by an inability in the synthesis of mitochondrial proteins or transfer RNA (tRNA) and ribosomal RNA (rRNAs) encoded by nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) either due to sporadic or spontaneous mtDNA or nDNA mutations or due to exogenous noxious influences like drugs, toxins or infections and these disorders have various clinical presentations. It is believed that >95% of the MCPs are caused by nDNA mutations. In this paper, we present a case of adult onset pure mitochondrial myopathy. A46 year-old male had complaints of exertional dyspnea which progressively developed in twelve years, palpitation, bilateral eyelid drooping and proximal muscle weakness. Serum CPK, lactate, piruvate and lactate/piruvate levels of the patient were high. There was mild-moderate restrictive respiratory distress. Myogenic pattern was found in EMG. The diagnosis was established by mitochondrial accumulation in subsarcolemmal regions [“ragged red fiber” (RRF)] in many and the lack of COX activity in a small number of muscle fibers. Common deletion has been found in genetic analysis. The patient was accepted as adult onset pure mitochondrial myopathy, as he had only muscle findings clinically and pathologically.
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Abstract (Original Language): 
Mitokondriyopatiler (MKP), nükleer DNA (nDNA) veya mitokondriyal DNA (mtDNA) taraf›ndan kodlanan mitokondriyal proteinlerin veya transfer RNA (tRNA) ve ribozomal RNA (rRNA)n›n, mutasyon sonucu (primer) ya da baz› ilaçlar, toksinler, infeksiyonlar vb. ekzojen faktörlerle (sekonder) sentezlenememesi sonucu geliflen ve de¤iflik klinik tablolarla ortaya ç›kan bir hastal›k grubudur. Olgular›n %95’inden fazlas›nda nDNA’daki mutasyonlar sorumludur. Burada eriflkin bafllang›çl› saf mitokondriyal myopati olgusu sunulmufltur. K›rkalt› yafl›ndaki erkek hastada son oniki y›lda giderek artan efor dispnesi, çarp› nt›, her iki gözkapa¤›nda düflüklük ve proksimal kas güçsüzlü¤ü vard›. Hastan›n serum CPK, laktat, piruvat ve laktat/piruvat düzeyleri yüksekti. Hafif-orta derecede restriktif tipte solunum yetersizli¤i vard›. EMG’de myojenik tutulum bulundu. Tan› kas biyopsisinde birçok kas lifinde subsarkolemmal alanda mitokondriyal birikim [“ragged red fiber” (RRF)] görülerek konuldu. Ayr›ca baz› kas liflerinde COX aktivitesi de yoktu. Genetik analizinde de “common” delesyon saptand›. Olgumuz klinik ve patolojik olarak sadece kas bulgular›n›n olmas› nedeniyle eriflkin bafllang›çl› saf mitokondriyal myopati olarak kabul edilmifltir.
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  • 4
119-122
  • Turkish

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