R Fernández

Hospital do Meixoeiro, Vigo, Galicia, Spain

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Publications (5)26.56 Total impact

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    ABSTRACT: To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. The coding sequence of the entire myophosphorylase gene was sequenced in DNA extracted from muscle and blood. Restriction fragment length polymorphism analysis of polymerase chain reaction fragments was used to confirm and simplify detection of a novel mutation. A collaborative study between 2 university laboratories in Spain and the United States. Five of the 10 patients harbored a novel missense mutation in exon 20, converting a tryptophan to an arginine (W797R). Three patients were homozygous for the "common" R49X mutation, and the remaining 2 patients were compound heterozygotes for R49X and a previously described missense mutation, G204S. The W797R missense mutation is the third novel mutation to be identified among Spanish patients. Its relative frequency suggests that it should be added to the R49X mutation in the molecular screening of McArdle disease in Spain.
    JAMA Neurology 03/2000; 57(2):217-9. · 7.58 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and in a protein domain related to dimer contact. These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups.
    Muscle & Nerve 09/1999; 22(8):1136-8. · 2.31 Impact Factor
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    ABSTRACT: Hirano bodies constitute eosinophilic intracytoplasmic inclusions, typically seen in the central nervous system, where they are related to senility and certain dementias such as Alzheimer's disease or the Parkinson-dementia complex. They have been found in different tissues of experimental animals and, on rare occasions, in extraocular muscles of elderly individuals. However, to our knowledge they have not been described in skeletal muscle in locations other than extraocular muscles or associated with muscle pathology. Glycogenosis II or Pompe's disease, is a metabolic disorder caused by acid maltase deficiency and is characterized by glycogen accumulation in lysosomes in various tissues, including skeletal muscle. There are three clinical forms depending on age at onset, the most frequent being the childhood form. We present the histopathological and ultrastructural findings of a muscle biopsy performed in a case of the adult form of glycogenosis II which showed, in addition to characteristic lysosomal glycogen storage, paracrystalline mitochondrial inclusions and, as an exceptional finding, intracytoplasmic Hirano bodies in some muscle fibres.
    Neuromuscular Disorders 06/1999; 9(3):136-43. · 3.46 Impact Factor
  • S Teijeira, A Teijeiro, R Fernández, C Navarro
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    ABSTRACT: The immunohistochemical expression of utrophin in 80 muscle biopsies from patients with dystrophinopathies and other neuromuscular disorders is reported. All biopsy specimens were routinely studied by a battery of 12 histoenzymatic techniques, and immunohistochemistry was performed for spectrin, three domains of dystrophin and two domains of utrophin. Abnormal utrophin expression was observed in all dystrophinopathic muscles compared with normal controls or biopsy samples from several other muscular diseases. Inflammatory myopathies presented abnormal overexpression of utrophin and an abnormal dystrophin immunolabeling pattern. This overexpression of utrophin appears to be directly related to the decrease in dystrophin. We conclude that the study of utrophin is important for the histological interpretation and differential diagnosis of dystrophin-related muscular disorders.
    Acta Neuropathologica 12/1998; 96(5):481-6. · 9.73 Impact Factor
  • Neuromuscular Disorders 01/1997; 7(6):462-463. · 3.46 Impact Factor