Nerve Conduction Abnormalities in Patients With MELAS and the A3243G Mutation

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Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.

BACKGROUND Mitochondrial DNA point mutations are especially deleterious to tissues with high energy demand, including the peripheral nervous system. Neuropathy has been associated with several mitochondrial diseases, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes). OBJECTIVE To evaluate nerve conduction in a genotypically and phenotypically homogene...

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MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

BACKGROUND the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS retrospective and ongoing study of an extend...

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Clinical features of MELAS and its relation with A3243G gene point mutation.

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) mostly occur in children. The point mutation A3243G of mitochondrial DNA (mtDNA) may work as a specific bio-marker for mitochondrial disorders. The related clinical features, however, may vary among individuals. This study therefore investigated the relation between MELAS clinical features and point mutation A324...

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The Relationship between Nerve Conduction Studies and Electromyography Findings in Patients with Carpal Tunnel Syndrome

Background: Carpal tunnel syndrome is the most common neuropathy in the general population. Nerve conduction studies are among the standard methods for diagnosing carpal tunnel syndrome. Electromyography is painful and unpleasant, and if nerve conduction studies can be used to diagnose axonal injury in carpal tunnel syndrome, electromyography might be replaced. Objectives: This study aimed t...

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ژورنال

عنوان ژورنال: Archives of Neurology

سال: 2006

ISSN: 0003-9942

DOI: 10.1001/archneur.63.5.746