𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

✍ Scribed by Adele D’Amico; Claudio Graziano; Giuseppe Pacileo; Stefania Petrini; Kristen J. Nowak; Renata Boldrini; Adam Jacques; Juan-Juan Feng; Berardino Porfirio; Caroline A. Sewry; Filippo M. Santorelli; Giuseppe Limongelli; Enrico Bertini; Nigel Laing; Steven B. Marston


Book ID
116792724
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
720 KB
Volume
16
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Fatal hypertrophic cardiomyopathy associ
✍ Yukihiro Akita; Yasutoshi Koga; Rikako Iwanaga; Naoko Wada; Junko Tsubone; Seiic 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 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