A new family with transportinopathy: increased clinical heterogeneity

We describe a family with a novel TNPO3 mutation of limb–girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to be due to TNPO3 gene mutation, encoding transportin-3 protein (TNPO3). We present the clinical, histopathological and muscle magnetic resonance imaging (MRI) features in two patients, mother and son Hungarian origin, affected by LGMD D2 and correlate their clinical, MRI and histopathological data found in this condition. The affected son presented early pelvic girdle muscle weakness and thin muscles similar to a congenital myopathy; the mother was less compromised and had an LGMD phenotype. Muscle MRI showed a very pronounced lower limb muscle atrophy in both patients. The most relevant change obtained in the child muscle biopsy was a generalized type 1 fibre atrophy. The two patients presented the same mutation, but a different phenotype has been observed in mother and son.

Neuromuscular electrical stimulation prevents muscle wasting in critically ill comatose patients

Patients admitted to the intensive care unit (ICU), especially fully sedated patients, experience extensive muscle wasting. Neuromuscular electrical stimulation prevents muscle fibre atrophy in these critically ill comatose patients during 7 days of ICU stay, and possibly improves survival and subsequent rehabilitation.

Muscle disuse atrophy is not accompanied by changes in skeletal muscle satellite cell content

Two weeks of muscle disuse led to a loss in muscle mass and strength. The loss in muscle mass was attributed to both type I and type II muscle fibre atrophy, and was not accompanied by a decline in satellite cell content.