Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Author:

Mayr Johannes A.,Haack Tobias B.,Graf Elisabeth,Zimmermann Franz A.,Wieland Thomas,Haberberger Birgit,Superti-Furga Andrea,Kirschner Janbernd,Steinmann Beat,Baumgartner Matthias R.,Moroni Isabella,Lamantea Eleonora,Zeviani Massimo,Rodenburg Richard J.,Smeitink Jan,Strom Tim M.,Meitinger Thomas,Sperl Wolfgang,Prokisch Holger

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise;Sengers;J. Pediatr.,1975

2. Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy;Cruysberg;Am. J. Ophthalmol.,1986

3. Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion—a little known metabolic disease;Lalive d'Epinay;Klin. Monbl. Augenheilkd.,1986

4. A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis;van Ekeren;Eur. J. Pediatr.,1993

5. Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy;Smeitink;Eur. J. Pediatr.,1989

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