Combination of mtDNA mutations in a patient with a mitochondrial multisystem syndrome |
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| Authors: | G. De Joanna F. M. Santorelli C. Casali V. Brecia-Morra A. Perretti L. Santoro |
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| Affiliation: | (1) Istituto di Malattie Nervose e Mentali, La Sapienza University, Viale dell'Università, 30, 00186 Roma, Italy Tel. +39-06-49914458; Fax +39-06-445-4294 e-mail: fms3@na.flashnet.it., IT;(2) Department of Neurophysiopathology, Federico II University, Napoli, Italy, IT;(3) Ospedale Civile, Cava de' Tirreni (SA), Italy, IT |
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| Abstract: | We report a patient who manifested a heterogeneous clinical presentation, including hypertrophic cardiomyopathy and hypothyroidism, with initially limited central nervous system involvement, and who harbored the mitochondrial (mt)DNA A3243G mutation. MtDNA analyses also revealed deleted genomes in muscle and blood. This atypical molecular combination may have influenced the clinical phenotype. Received: August 5, 1999 / Accepted: October 5, 1999 |
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| Keywords: | mtDNA MELAS genotype-phenotype correlation |
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