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A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy

✍ Scribed by Dr Yu-ichi Goto; Megumu Tojo; Jun Tohyama; Satoshi Horai; Ikuya Nonaka

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 541 KB
Volume: 31
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410310617

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## Communicated by N m n Arnheim We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in li