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- W2022363141 abstract "The case of a patient showing bilateral ophthalmoplegia with proximal limb weakness, severe dysphagia and short stature, without family history, is described. The diagnosis of Kearns-Sayre syndrome was excluded because of the absence of pigmentary retinopathy and of all other common manifestations except short stature. The analysis of mitochondrial DNA of the patient’s muscle revealed a deleted form accounting for 65% of the total mitochondrial DNA. The deletion, undetectable in the mitochondrial DNA of peripheral blood leukocytes, was apparently indistinguishable from that already described by others in a far more severe form of classic Kearns-Sayre syndrome." @default.
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- W2022363141 date "1991-01-01" @default.
- W2022363141 modified "2023-09-26" @default.
- W2022363141 title "Mitochondrial DNA Deletion in Oculoskeletal Myopathy" @default.
- W2022363141 doi "https://doi.org/10.1159/000116668" @default.
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