We describe an 8-day-old baby girl presenting a fatal infantile form of hypertrophic obstructive cardiomyopathy, associated with an A8296G mutation in the mitochondrial tRNA Lys gene. She was born from a healthy unrelated couple, and was the first infant of dizygotic twins. Soon after birth, she was
โฆ LIBER โฆ
The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene
โ Scribed by Walter Rossmanith; Thomas Raffelsberger; Julia Roka; Barbara Kornek; Martha Feucht; Reginald E. Bittner
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 182 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Fatal hypertrophic cardiomyopathy associ
โ
Yukihiro Akita; Yasutoshi Koga; Rikako Iwanaga; Naoko Wada; Junko Tsubone; Seiic
๐
Article
๐
2000
๐
John Wiley and Sons
๐
English
โ 85 KB
๐ 1 views
A novel heteroplasmic point mutation in
โ
Massoud Houshmand; Christopher Lindberg; Ali-Reza Moslemi; Anders Oldfors; Elisa
๐
Article
๐
1999
๐
John Wiley and Sons
๐
English
โ 459 KB
๐ 2 views
We have identified a new mutation in the tRNA(Lys) gene of mtDNA, in a 49-year-old patient with mitochondrial encephalomyopathy. The mutation is a heteroplasmic G-->A transition at position 8328, which affects the anticodon stem loop at a conserved site. The mutation was neither found in 100 control
Cosegregation of the G7444A mutation in
โ
Huijun Yuan; Yaping Qian; Yanjun Xu; Juyang Cao; Linna Bai; Weidong Shen; Fei Ji
๐
Article
๐
2005
๐
John Wiley and Sons
๐
English
โ 173 KB
๐ 2 views
Cosegregation of C-insertion at position
โ
Li, Ronghua ;Xing, Guangqian ;Yan, Ming ;Cao, Xing ;Liu, Xue-Zhong ;Bu, Xingkuan
๐
Article
๐
2003
๐
John Wiley and Sons
๐
English
โ 137 KB
๐ 1 views