Juan Antonio Martínez-Matos

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A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had(More)
Immunohistochemical studies using antibodies to myogenic regulatory factors (MRFs) Myo D, myogenin, myf-5, and myf-6, and transcription factors c-Fos and c-Jun, were performed on muscle biopsies from patients suffering from Duchenne and Becker muscular dystrophies, polymyositis, and denervation atrophy, to investigate whether expression of these factors(More)
Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peripheral neuropathy and sensorineural hearing impairment. A wide range of disease severity for peripheral(More)
INTRODUCTION The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2). OBJECTIVE The objective of our study is to establish the incidence of MFN2 mutations in a cohort of Spanish patients with axonal CMT neuropathy. MATERIAL AND METHODS Eighty-five families with(More)
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities).(More)
Retrospective demographic information and hospital record data were collected for 337 patients resident in Spain who had validated Guillain-Barré syndrome (GBS) diagnoses and clinical onset during the period 1985-1997 and had been admitted to 11 centres, covering a population of 3.9 million. The European age-adjusted GBS incidence per 100,000 for 1985-1997(More)
STUDY OBJECTIVES To analyze (1) the impact of a protocol of early respiratory evaluation of the indications for home mechanical ventilation (HMV) in patients with amyotrophic lateral sclerosis (ALS), and (2) the effects of the protocol and of bulbar involvement on the survival of patients receiving noninvasive ventilation (NIV). DESIGN AND SETTING(More)
OBJECTIVE Myotonic dystrophy (MyD) is a systemic disorder in which insulin resistance is well recognized. In the present study we have characterized plasma leptin levels in patients with MyD and in age, sex and body mass index (BMI) matched controls and assessed the influence of leptin on the clinical manifestations of MyD. DESIGN AND PATIENTS Body(More)
Muscle biopsies from patients affected by muscular dystrophies and polymyositis were processed with the method of in situ labeling of nuclear DNA fragmentation in order to assess whether apoptosis occurs in these diseases. Apoptotic nuclei were seen in the mononuclear cell infiltrates in inflammatory myopathies but not in dying muscle fibers, thus(More)
In POEMS syndrome the identification and biopsy of an osteosclerotic lesion or a lymph node typical of Castleman's disease (CD) is essential to establish the diagnosis and plan appropriate treatment. We report four patients in whom the localisation and identification of diagnostic bone lesions or lymphadenopathies were guided by fluorodeoxyglucose positron(More)