نتایج جستجو برای: mitochondrial cytopathies
تعداد نتایج: 132410 فیلتر نتایج به سال:
BACKGROUND AND PURPOSE Predominant cerebellar involvement has not been previously reported as a common neuroradiologic feature in pediatric mitochondrial cytopathies. Here we report the neuroradiologic findings of predominant cerebellar volume loss in children with various mitochondrial disorders. METHODS A retrospective analysis of the medical records of 400 consecutive patients referred for...
Botulinum toxin type A (BTXA) is widely used in neurological therapeutics for a variety of indications such as dystonia, spasticity, hyperhidrosis, and hypersalivation. It is relatively contraindicated in disorders of neuromuscular transmission, in individuals with known hypersensitivity or bleeding disorders, and during pregnancy. Two patients are presented with initially undetermined multisys...
Mitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. The over...
BACKGROUND Mitochondrial cytopathies are a heterogeneous group of disorders with a broad spectrum of clinical symptoms. OBJECTIVE To characterize a novel mutation in the transfer RNA(Asn) (m.5728A>G) identified in a 13-year-old boy with multiorgan failure. DESIGN Biochemical and immunocytochemical studies were performed in combination with transmitochondrial cybrid analysis. SETTING A uni...
Skeletal muscle bioenergetics and control of intracellular pH have been investigated in 46 patients with chronic fatigue syndrome by phosphorus magnetic resonance spectroscopy. The results have been compared with those from healthy controls and from a group of patients with mitochondrial cytopathies affecting skeletal muscle. No consistent abnormalities of glycolysis, mitochondrial metabolism o...
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing that mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with ...
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