2 To the best of our knowledge, an isolated late onset distal myopathy has never been described in association with multiple mtDNA deletions, and high densities of TA have not previously been ...

Results: All patients with selectively elevated serum aldolase had muscle discomfort (92%), weakness (proximal and distal) (50%), or both. Frequent systemic features included joint pain (75%), skin ...

One of the proband’s sons demonstrated mild calf enlargement, slightly elevated CK levels, and initial symptoms suggestive of developing myopathy. No increase in blood lactate levels were observed.

Genetic tests to find out why led to discovery I had rare cancer' Cavents was eventually diagnosed with distal myopathy ...

It has two attachments near the shoulder. one inside the shoulder joint (the “long head biceps tendon”) one in front of the shoulder joint (the “short head biceps tendon”) Near the elbow, the two ...

Many rare disease patients do not receive a formal genetic diagnosis, but a European data-sharing project aimed to give them a second chance. Arne Cavents was four years old when he was misdiagnosed.

A fracture of the distal radius is one of the most common types of injuries to the skeletal system. It is treated using a variety of different techniques, from casting to pinning to open surgery with ...

cNeuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA dDubowitz Neuromuscular Centre ...

The optimal therapeutic approach for acute ischaemic stroke due to distal medium vessel occlusion remains uncertain. The use of endovascular therapy in this context is restricted by challenges in ...