menadione/asthenia

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Menadione-induced cytotoxicity effects on human erythrocyte membranes studied by electron paramagnetic resonance.

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Ielogoties Reģistrēties

Menadione (2-methyl-1,4-naphthoquinone) is cytotoxic to hepatocytes. In order to begin to investigate the changes in the physical state of membranes induced by this cytotoxic substance, electron paramagnetic resonance (EPR) spin-labeling techniques were used in conjunction with spin labels specific

Cytoskeleton as a target in menadione-induced oxidative stress in cultured mammalian cells: alterations underlying surface bleb formation.

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Ielogoties Reģistrēties

Several in vitro and in vivo studies have suggested that surface bleb formation during oxidative cell injury is related to alteration in cytoskeleton organization. Various cell lines different in origin and growth characteristics were exposed to 2-methyl-1,4-naphthoquinone (menadione) which is known

[Reducing body myopathy--a case report].

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Ielogoties Reģistrēties

A 2-year-old girl with reducing body myopathy was reported. She had no family history of neuromuscular disease. She developed normally with no delay in milestones during infancy. She had no muscle weakness or hypotonia up to 2 years of age when she received mumps vaccination. Three days after the

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

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Ielogoties Reģistrēties

We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The

Novel FHL1 mutation in a family with reducing body myopathy.

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Ielogoties Reģistrēties

BACKGROUND Reducing body myopathy is a rare X-linked myopathy. It is characterized by intracytoplasmic inclusions that stain with menadione-nitroblue tetrazolium. It is caused by mutations in the FHL1 gene, which encodes the four-and-a-half LIM domain 1 protein (FHL1). METHODS We performed a

Familial reducing body myopathy.

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Ielogoties Reģistrēties

Reducing body myopathy (RBM) is a rare pathologically defined myopathy characterized by the presence of inclusion bodies which are abnormally stained by menadione-nitroblue-tetrazolium. The clinical symptoms vary widely as to the age of onset, disease progression and severity. Among the many

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

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Ielogoties Reģistrēties

OBJECTIVE Some pathologic features of the FHL1 myopathies and the myofibrillar myopathies (MFMs) overlap; we therefore searched for mutations in FHL1 in our cohort of 50 patients with genetically undiagnosed MFM. METHODS Mutations in FHL1 were identified by direct sequencing. Polymorphisms were

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.

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Ielogoties Reģistrēties

OBJECTIVE Reducing body myopathy (RBM) is a rare progressive disorder of muscle characterized by intracytoplasmic inclusions, which stain strongly with menadione-NBT (nitroblue tetrazolium). We recently identified the four and a half LIM domain gene FHL1 located on chromosome Xq26 as the causative

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