ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.

Mitchell syndrome is a very rare genetic disorder due to a specific de novo gain-of-function variant in acyl-CoA oxidase 1 (). So far, only five patients with this disease have been described worldwide. We present here two additional unrelated German patients found to carry the same heterozygous  N237S variant through exome sequencing (ES).

Relationship of muscle function to auxology in preterm born children at the age of seven years.

Background/aims: To characterize the relationship between muscle function and auxology in preterm born children.

Methods: Forty-five preterm born children (birth weight < or =1,500 g with mean +/- SD: 1,069 +/- 281 g; median of gestational age: 29 weeks; 50% multiple births) were analyzed for auxological parameters (weight, height) and muscle function at the age of 7 years. Maximal isometric grip force (MIGF) and ground reaction forces of goal-directed counter-movement jumping were measured using the Preston dynamometer and the Leonardo force plate.