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The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans

✍ Scribed by Tomás Ripoll Vera; Lorenzo Monserrat Iglesias; Manuel Hermida Prieto; Martin Ortiz; Isabel Rodriguez Garcia; Nancy Govea Callizo; Carlos Gómez Navarro; Jordi Rosell Andreo; José María Gámez Martínez; Guillermo Pons Lladó; David Cremer Luengos; Joan Torres Marqués


Book ID
116549235
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
206 KB
Volume
145
Category
Article
ISSN
0167-5273

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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