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- W2785682740 abstract "OBJECTIVE: To describe the phenotype associated with the novel m.9997 T>A tRNA Gly variant in a large, multiplex family.DESIGN: Case report.RESULTS: The proband presented at age 25 years with exercise intolerance, myalgia, weakness, ptosis, and neuropathy. He had a history of dilated cardiomyopathy and renal disease, initially attributed to IgA-nephropathy and then cardiorenal syndrome, which ultimately progressed to stage III kidney disease. Respiratory chain enzyme studies on muscle biopsy revealed low cytochrome c oxidase activity. Sequencing of the mitochondrial genome revealed the m.9997 T>A tRNA Gly variant at 100[percnt] homoplasmy. This variant was also identified in several matrilineal family members with diverse presentations including left ventricular noncompaction, dilated cardiomyopathy requiring transplant, arrhythmia, neuropathy, and cytochrome c oxidase deficiency. A pathogenic variant at this same nucleotide position (m.9997 T>C) in the tRNA Gly gene was previously reported segregating with hypertrophic cardiomyopathy in one large family. Although several family members carrying that variant were also noted to have chronic renal disease and bowel dysmotility, these phenotypes were not attributed to the variant in that report.CONCLUSIONS: The novel m.9997 T>A tRNA Gly variant may cause significant multisystem disease including various forms of cardiomyopathy, myopathy, bowel dysmotility, neuropathy, and nephropathy. This case illustrates the importance of the extended family history to identify affected individuals and the need for awareness of the pleiotropy of mitochondrial disease. Disclosure: Dr. Roggenbuck has nothing to disclose. Dr. Ilacqua has nothing to disclose. Dr. Aubuchon has nothing to disclose. Dr. Kissel has received personal compensation for activities with Alexion Pharmaceuticals, Cytokinetics, and ISIS Pharmaceuticals as an advisor." @default.
- W2785682740 created "2018-02-23" @default.
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- W2785682740 date "2016-04-05" @default.
- W2785682740 modified "2023-09-23" @default.
- W2785682740 title "The Novel m.9997 T>A tRNAGly Variant Causes Multisystem Mitochondrial Disease Including Myopathy, Neuropathy, Cardiomyopathy, Intestinopathy and Nephropathy (P5.016)" @default.
- W2785682740 hasPublicationYear "2016" @default.
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