Limb Girdle Muscular Dystrophies
Mostrando 1-12 de 16 artigos, teses e dissertações.
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1. Distrofia muscular de cinturas em crianças brasileiras: caracterização clínica, histologia e molecular
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy, particularly in children. The clinical course in this group is characterized by progressive prox
Arq. Neuro-Psiquiatr.. Publicado em: 2014-06
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2. Phenotypic and immunohistochemical characterization of sarcoglycanopathies
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of symptoms. Sarcoglycanopathies, which are a subgroup of the limb-girdle muscular dystrophies, are caused by mutati
Clinics. Publicado em: 2011
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3. Distrofias musculares progressivas de cinturas tipo 2: perfil epidemiolÃgico no estado do Cearà / Muscular Dystrophies progressive of waists type 2: profile epidemiologist in the state of CearÃ, Northeast of Brazil
Objective: To report the clinical and muscle biopsy findings from the recessive forms of limb girdle muscular dystrophies (LGMD type 2) seen in the state of CearÃ, Northeast of Brazil. Design: Case series. Setting: Tertiary care clinic, University hospital. Patients and Methods: We studied 41 patients from 32 families with chronic progressive weakness in a
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/09/2008
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4. New method for the estimation of the number of motor units in a muscle: 2. Duchenne, limb-girdle and facioscapulohumeral, and myotonic muscular dystrophies
The results of the application of a computerized method for the estimation of motor unit numbers in the human extensor digitorum brevis are presented. In patients with Duchenne and limb-girdle and facioscapulohumeral muscular dystrophies, motor unit numbers are within the normal range, but are significantly reduced in myotonic muscular dystrophy.
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5. Computer method for the analysis of evoked motor unit potentials. 2. Duchenne, limb-girdle, facioscapulohumeral and myotonic muscular dystrophies.
Single motor unit potentials recorded from surface electrodes over the extensor digitorum brevis muscle and evoked by stimulation of the anterior tibial nerve at the ankle were obtained by a computer subtraction method. Their latencies, durations, amplitudes, and areas were measured in control subjects and patients with Duchenne, limb-girdle, facioscapulohum
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6. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight ou
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7. Report of ENMC workshop on the limb-girdle muscular dystrophies.
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8. Abnormal Polyamine Metabolism in Hereditary Muscular Dystrophies: EFFECT OF HUMAN GROWTH HORMONE
Previous studies showed hyperre-sponsiveness to human growth hormone (hGH) in men with myotonic or limb girdle dystrophies (MMD or LGD). Because polyamines may mediate some actions of hGH, we have now investigated polyamine metabolism in these and other dystrophies.
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9. Contractility and supersensitivity to adrenaline in dystrophic muscle.
In the adductor pollicis muscle of patients with limb-girdle and facioscapulohumeral muscular dystrophies and possible carriers of Duchenne type muscular dystrophy, abnormal active state properties were found at the time when there was no alteration of needle electromyography and evoked muscle action potentials. Adrenaline induced a marked reduction of incom
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10. Gene transfer establishes primacy of striated vs. smooth muscle sarcoglycan complex in limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy types 2E and F are characterized by skeletal muscle weakness and often cardiomyopathy and are due to mutations in the genes encoding β- and δ-sarcoglycan. We previously demonstrated that loss of sarcoglycans in smooth muscle leads to constrictions of the microvasculature that contributes to the cardiac phenotype. It is un
National Academy of Sciences.
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11. Possible neurogenic factor in muscular dystrophy: its similarity to denervation atrophy1
Muscle biopsy specimens from 179 cases of muscular dystrophies and from 140 cases of anterior horn cell disorders (from a total of 1,348 biopsied patients) were examined histologically. There were 72 cases of Duchenne type muscular dystrophy (DMD), five of Becker type MD, four girls with myopathy resembling DMD, 40 with limb-girdle, 10 with facioscapulohumer
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12. A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Among the heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (AR LGMDs), the sarcoglycanopathies (LGMD2C-2F) represent a subgroup characterised by defects in the gamma, alpha, beta, and delta sarcoglycan genes, respectively. Genotype-phenotype correlations in these forms of AR LGMD are important to enhance our understanding of protei