✦ LIBER ✦

Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy

✍ Scribed by J. A. M. Smeitink; R. C. A. Sengers; J. M. F. Trijbels; W. Ruitenbeek; O. Daniëls; A. M. Stadhouders; M. J. H. Kock-Jansen

Book ID: 104775148
Publisher: Springer
Year: 1989
Tongue: English
Weight: 873 KB
Volume: 148
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00441527

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hereditary mitochondrial hypertrophic ca

Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis

✍ Ekeren, Gerrit J. ;Stadhouders, Ad M. ;Egberink, Gerdi J. M. ;Sengers, Rob C. A. 📂 Article 📅 1987 🏛 Springer-Verlag 🌐 English ⚖ 772 KB

“Carnitine deficient” myopathy and cardi

“Carnitine deficient” myopathy and cardiomyopathy with fatal outcome

✍ F. Cornelio; S. Di Donato; D. Testa; M. Mora; G. Gori; D. Peluchetti; M. Rimoldi 📂 Article 📅 1979 🏛 Springer Milan 🌐 English ⚖ 682 KB

Novel mitochondrial DNA mutations associ

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

✍ Annette Feigenbaum; Ren-Kui Bai; Emily S. Doherty; Haeyoung Kwon; Duanjun Tan; A 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 247 KB 👁 2 views

Congenital hypertrophic cardiomyopathy,

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome

✍ Eva Morava; Rob Sengers; Henk ter Laak; Lambert van den Heuvel; Antoon Janssen; 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 311 KB

Fatal hypertrophic cardiomyopathy associ

Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNALys gene

✍ 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

Mitochondrial myopathy with anemia, card

Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder

✍ Van Hove, Johan L. K. ;Shanske, Sara ;Ciacci, Federica ;Ballinger, Scott ;Shoffn 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 930 KB