leigh disease/asthenia

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[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex].

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Prijava / prijava

A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit,

Subacute necrotizing encephalomyelopathy (Leigh's disease): report of a case.

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Prijava / prijava

A 5-month-old male infant was referred to us for evaluation of progressive hypotonia. He had growth retardation, feeding difficulty and general weakness. Brain sonography and computed tomography demonstrated symmetrical lesions in the caudate, lenticular nuclei, thalamus and hypothalamus, suggesting

Facial Dysmorphism, Hirsutism, and Failure to Thrive as Manifestation of Leigh Syndrome in a Child with SURF1 Mutation

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Prijava / prijava

Leigh syndrome (or subacute necrotizing encephalomyelopathy) is a rare neurodegenerative disorder characterized by psychomotor retardation or regression, typically occurring in stepwise decrements. Onset is typically between ages 3 and 12 months. Neurological manifestations include hypotonia,

Leigh's disease in an adult with evidence of "inhibitor factor" in family members.

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A 21-year-old man with a longstanding history of impaired visual acuity, strabismus, broad-based gait, and below-average intellectual capacity developed respiratory difficulties and intermittent generalized weakness at age 19. He subsequently showed signs of massive brainstem dysfunction and died.

Schizophrenia-like symptoms in a patient with Leigh syndrome.

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Prijava / prijava

Leigh syndrome is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy. Almost all cases of Leigh syndrome develop at infancy or early childhood and die within several years due to rapidly progressive muscle weakness and respiratory failure. Here, we present a rare case

Leigh syndrome associated with a novel mutation in the COX15 gene.

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Prijava / prijava

Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with a diverse range of symptoms, such as psychomotor delay or regression, weakness, hypotonia, truncal ataxia, intention tremor as well as lactic acidosis in the blood, cerebrospinal fluid or urine. Both nuclear gene defects and

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

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Prijava / prijava

This patient presented on the first day of life with pronounced lactic acidosis with an elevated lactate/pyruvate ratio. Urine organic acids showed Krebs cycle metabolites and mildly elevated methylmalonate and methylcitrate. The acylcarnitine profile showed elevated propionylcarnitine and

Clinicopathologic and magnetic resonance imaging characteristics associated with polioencephalomyelopathy in a Shih Tzu.

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Prijava / prijava

METHODS A 17-month-old 7-kg (15.4-lb) Shih Tzu was evaluated because of progressive thoracic limb weakness of 3 months' duration. RESULTS Neuroanatomic diagnosis was consistent with a lesion affecting the cervicothoracic (C6 through T2) spinal cord segments. Electrophysiologic testing revealed

Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G.

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Prijava / prijava

The mtDNA mutation 8993T > G is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and Leigh syndrome. There are few reported cases of prenatal testing for mtDNA disorders. Specifically for 8993T > G, there are six cases in which prenatal diagnosis has been reported.

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.

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Prijava / prijava

The point mutation at bp 8993 of human mtDNA in the ATPase 6 gene is associated with neurogenic weakness, ataxia and retinitis pigmentosa, and with subacute necrotizing encephalomyelopathy (Leigh disease) when present at high copy number. In this study we describe three new multiplex families with

Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle.

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Prijava / prijava

We report on a boy who developed proximal renal tubular acidosis with loss of carnitine at the age of about 6 months. A few months later he began to suffer from progressive muscular weakness and neurological disturbances. Blood biochemistry showed elevated lactate and beta-hydroxybutyrate with

The aleu207-->arg mutation in F1F0-ATP synthase from Escherichia coli. A model for human mitochondrial disease.

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Prijava / prijava

The mitochondrial ATPase 6 gene encodes a subunit of F1F0 adenosine triphosphate (ATP) synthase. A mutation in the ATPase 6 gene has been genetically linked to two maternally inherited genetic diseases: neurological muscle weakness, ataxia, and retinitis pigmentosa (NARP) and certain cases of

Neurological presentations of mitochondrial diseases.

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Prijava / prijava

We present here a report on a 5-year experience in clinical investigation, diagnostic management and molecular genetic studies of neuromitochondrial disorders, defined on the basis of morphological, biochemical and genetic findings. Leigh disease is the most frequent clinical presentation in infancy

A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations.

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Prijava / prijava

Leigh syndrome (also called Leigh disease or subacute necrotizing encephalomyelopathy) is a rare inherited neurometabolic disorder, which affects the central nervous system. This meta-study systematically analyzed clinical manifestations, respiratory chain enzyme complex deficiency, and gene

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