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Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

✍ Scribed by S. Marston; E. Bertini; A. Porfirio; C. Graziano; S. Petrini; A. D'Amico; F.M. Santorelli; G. Pacileo; C. Sewry


Book ID
116984719
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
45 KB
Volume
42
Category
Article
ISSN
0022-2828

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Fatal hypertrophic cardiomyopathy associ
✍ Yukihiro Akita; Yasutoshi Koga; Rikako Iwanaga; Naoko Wada; Junko Tsubone; Seiic πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 85 KB πŸ‘ 1 views

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