Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy.
نویسندگان
چکیده
Departamento de Neurologia e Núcleo de Pesquisa Clínica em Neurologia/Neurociências da Universidade Federal Fluminense (NeuroUPC-UFF), Rio de Janeiro, Brazil. Correspondence: Osvaldo J. M. Nascimento; Rua Siqueira Campos 53/1204; 22031-070 Rio de Janeiro RJ Brasil; Email: [email protected] Conflict of interest: There is no conflict of interest to declare. Received 08 September 2011; Received in final form 14 October 2011; Accepted 21 October 2011
منابع مشابه
Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive multiorgan disease, frequently associated with mutations in the thymidine phosphorylase (TYMP) gene. TYMP encodes thymidine phosphorylase (TP), which has an essential role in the nucleotide salvage pathway for mitochondrial DNA (mtDNA) replication. This study reports an MNGIE patient with novel compound hetero...
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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmoparesis, demyelinating neuropathy, cachexia and gastrointestinal dysmotility. Hemodialysis (HMD) has been suggested as a treatment to reduce accumulation of...
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ورودعنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 70 3 شماره
صفحات -
تاریخ انتشار 2012