A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.

Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2) associated centronuclear myopathy, whereas necklace fibres are typically seen in late onset myotubularin-1 (MTM1)-related myopathy. We report a woman with unilateral symptoms probably related to brachial plexus neuritis. Electromyography revealed localised neuropathic and generalised myopathic abnormalities.

Anal sphincter electromyography in patients with newly diagnosed idiopathic parkinsonism.

Objectives: The differential diagnosis of patients with idiopathic parkinsonism is difficult, especially early in the course of the disease. External anal sphincter electromyography (EAS-EMG) has been reported to be of value in the differential diagnosis between Parkinson's disease (PD) and multiple system atrophy (MSA). Patients with MSA are reported to have pathological EAS-EMG and patients with PD are reported to have significantly less pathological EAS-EMG results.

Myofibrillar protein and gene expression in acute quadriplegic myopathy.

The dramatic muscle wasting, preferential loss of myosin and impaired muscle function in intensive care unit (ICU) patients with acute quadriplegic myopathy (AQM) have traditionally been suggested to be the result of proteolysis via specific proteolytic pathways. In this study we aim to investigate the mechanisms underlying the preferential loss of thick vs. thin filament proteins and the reassembly of the sarcomere during the recovery process in muscle samples from ICU patients with AQM.

Secreted frizzled related protein 1 (Sfrp1) and Wnt signaling in innervated and denervated skeletal muscle.

Wnts are secreted proteins with functions in differentiation, development and cell proliferation. Wnt signaling has also been implicated in neuromuscular junction formation and may function in synaptic plasticity in the adult as well. Secreted frizzled-related proteins (Sfrps) such as Sfrp1 can function as inhibitors of Wnt signaling.

Digital nerve somatosensory evoked potentials and MRI. Correlation analysis in patients with symptomatic cervical spine disorders.

Objectives: Analysis of the relationship between the symptoms, digital nerve somatosensory evoked potentials (D-SEP) and MRI, in patients with symptomatic cervical spine disorders (CSD).

Materials And Methods: MRI and D-SEP following electrical stimulation of digits I, III and V in 44 patients.

Results: Symptoms in the fingers correlated significantly with disk herniation at the corresponding cervical level and with spinal cord impingement at one or two adjacent rostral segments on MRI.