Charcot Marie Tooth Disease
Mostrando 1-12 de 56 artigos, teses e dissertações.
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1. Inflammatory myopathy in the context of an unusual overlapping laminopathy
Summary Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery–Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dys
Arch. Endocrinol. Metab.. Publicado em: 17/05/2018
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2. Investigação clínica, neurofisiológica e genética da doença de Charcot-Marie-Tooth tipo 2 de herança dominante / Clinical, genetics and neurophysiological investigation of Charcot Marie Tooth disease type 2 of dominant inheritance
A doença de Charcot-Marie-Tooth (CMT) caracteriza-se por comprometimento dos nervos periféricos de predomínio distal, tendo curso clínico variável. Observa-se quadro de evolução lenta de atrofia e fraqueza distal em membros inferiores, seguidos por diminuição da sensibilidade. Os reflexos estão em geral abolidos, mas podem estar exaltados e acompan
Publicado em: 2011
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3. Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication
The Thr(118)Met substitution in the peripheral myelin protein 22 (PMP22) gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1) neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. We describe here a CMT1 family (
Brazilian Journal of Medical and Biological Research. Publicado em: 2003-10
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4. Ataxia and other data reviewed in Charcot-Marie-Tooth and Refsum's disease.
The author reports his experience on Refsum's disease and that gained after personally examining in detail 64 patients with Charcot-Marie-Tooth disease over the past ten years. The "cerebellar" inco-ordination in Charcot-Marie-Tooth disease (with or without distal wasting) and in Refsum's disease is analysed. Some variations in the motor and sensory neuropat
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5. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.
Sixty-seven patients in 29 families with the diagnosis of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy in northern Sweden were examined by pedigree and DNA analysis for the CMT1a duplication within chromosome 17p11.2. There were 39 patients in nine families with Charcot-Marie-Tooth type 1 and autosomal dominant inheritance and in al
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6. Abnormal vascular reflexes in Charcot-Marie-Tooth disease.
Vascular reflexes were assessed in 17 adult patients with Charcot-Marie-Tooth disease using the Valsalva manoeuvre, and the pulse rate and systolic blood pressure responses to standing. Six patients showed abnormalities consistent with an autonomic neuropathy. One patient had giant nerve fibre bundles in the myenteric plexus of bowel resected for co-existent
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7. Diaphragm weakness in Charcot-Marie-Tooth disease.
Two patients are described with Charcot-Marie-Tooth disease and chronic peripheral neuropathy. Both had dyspnoea, orthopnoea, and evidence of severe diaphragm weakness. Expiratory muscle function was well preserved and abnormalities of gas exchange during sleep were only minor.
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8. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B families in whom a dynamin 2 mutation had been identified: Gly358Ar
Oxford University Press.
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9. Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.
A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome.
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10. Charcot-Marie-Tooth disease.
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11. Charcot-Marie-Tooth disease type 1.
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12. Neuroarthropathy in Charcot-Marie-Tooth disease.