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Digitale Medien

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency (1993)

Christodoulou, J. ; Petrova-Benedict, R. ; Robinson, B. H. ; [weitere]

Springer

European journal of pediatrics 152 (1993), S. 428-432

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Details

ISSN: 1432-1076

Schlagwort(e): Marfan ; NADH-coenzyme Q reductase ; Lactic acidosis ; Respiratory chain ; Mitochondrial myopathy

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF01955904

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