منابع مشابه
Mitochondrial myopathy with chronic progressive external ophthalmoplegia.
Introduction Mitochondrial diseases are a diverse group with multisystem involvement caused by structural, biochemical or genetic derangement of mitochondria. Cerebral neurones and myocytes which require a high yield of energy are particularly vulnerable to mitochondrial dysfunction and neuromuscular manifestations are common in mitochodrial disorders. We report two cases of mitochondrial myopa...
متن کاملMitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.
A 25-year-old man with chronically progressive ptosis and bilateral ophthalmoplegia displayed fatigability and fluctuation of ptosis, an abnormal single-fiber electromyogram, and a markedly elevated acetylcholine receptor antibody level. Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. This case em...
متن کاملA novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease
Chronic progressive external ophthalmoplegia is a mitochondrial disorder usually caused by single or multiple mitochondrial DNA (mtDNA) deletions and, more rarely, by maternally inherited mtDNA point mutations, most frequently in tRNA genes (MTT). We report on a patient presenting with a progressive eyelid ptosis with bilateral ophthalmoparesis, dysphagia, dysphonia and mild proximal limb weakn...
متن کاملThymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant form of the disease, but only mutations in the DNA polymerase gamma gene are known to cause autosomal recessive PEO ...
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ژورنال
عنوان ژورنال: Yonsei Medical Journal
سال: 2018
ISSN: 0513-5796,1976-2437
DOI: 10.3349/ymj.2018.59.10.1190