@article{00ae76bb6e7042afbcd427aec9157b98,
title = "Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease",
abstract = "A large MERRF pedigree permitted the direct testing of the predictions for a mitochondrial DNA (mtDNA) mutation. A mtDNA mutation was demonstrated by proving maternal inheritance and by identifying specific deficiencies in muscle energetics and mitochondrial respiratory complexes I and IV. mtDNA heteroplasmy (a mixture of mutant and wild-type mtDNAs) was demonstrated by showing variation in the mitochondrial energetic capacity between family members. The phenotypic consequences of differential tissue-specific reliance on mitochondrial ATP was shown by correlating individual respiratory deficiency with the nature and severity of patients' clinical manifestations. The observed spectrum of clinical manifestations resulting from this heteroplasmic mtDNA mutation implies that mtDNA disease may be much more prevalent than previously anticipated.",
author = "Wallace, {Douglas C.} and Xianxian Zheng and Lott, {Marie T.} and Shoffner, {John M.} and Hodge, {Judith A.} and Kelley, {Richard I.} and Epstein, {Charles M.} and Hopkins, {Linton C.}",
note = "Funding Information: The authors would like to express their appreciation for the consuita-tions of Drs. J. Michael Duffell, David A. Krendel, Keith Sanders, Gur-parkash Singh, and Alexander Voljavec. They would also like to recognize the excellent clerical assistance of Ms. Sandra Kerry as well as the technical support of Mr. Willy Thomas of Emory University Hospital, Department of Pathology, Electron Microscopy Laboratory. This work was supported by National Institutes of Health grant NS08075 awarded to Dr. Britten Chance for 31P-NMR, and NIH grant NS21328, a Muscular Dystrophy Foundation Clinical Research Grant, and an Emory University Department of Pediatrics Grant awarded to D. C. W. The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked “advertisement” in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.",
year = "1988",
month = nov,
day = "18",
doi = "10.1016/0092-8674(88)90218-8",
language = "English (US)",
volume = "55",
pages = "601--610",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "4",
}