نتایج جستجو برای: mitochondrial myopathy
تعداد نتایج: 143464 فیلتر نتایج به سال:
The diagnosis of a mitochondrial disorder is often difficult. Therefore, new approaches and diagnostic criteria are being developed. One of these tests is the aerobic forearm exercise test, a screening tool that can contribute to assess whether or not the patient suffers from a mitochondrial myopathy. With this simple, non-invasive test, the oxidative metabolism of muscle can be evaluated in re...
BACKGROUND Mitochondrial myopathies represent a group of disorders caused by mitochondrial defects that disrupt energy production. Most patients have issues from infancy to early childhood. Pregnancy in women with mitochondrial myopathy is uncommon and the management for these parturients is full of challenges. CASE PRESENTATION A 36-year-old woman with mitochondrial myopathy was scheduled fo...
mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...
A patient with mitochondrial myopathy is described. Examination of his fundus revealed bilateral vitelliform degeneration of the maculae. This lesion is a focal abnormality of the retinal pigment epithelium and may be a manifestation of the underlying mitochondrial disease.
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