M I García Erro

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A 13-year-old boy with autosomal-dominant congenital facial diplegia was evaluated by electrophysiologic and genetic investigations. Thirteen members of his family were affected over 4 generations. The electrophysiologic studies revealed blink reflex abnormalities. Both R1 and R2 responses were prolonged on the left side after ipsilateral stimulation, while(More)
Twelve patients between 15 months and 13 years of age with clinical and pharmacological features of myasthenia gravis were studied. Repetitive nerve stimulation did not offer valuable information; the patients demonstrated either inspecific muscular decremental response or had normal behavior. Two clear groups of patients were identified after measurements(More)
The identification of mutations in Duchenne or Becker muscular dystrophy (DMD/BMD) patients is important for carrier detection in these families. We present the patterns of deletions of the dystrophin gene in Argentine population. DNA from 75 patients with DMD/BMD was analyzed by multiplex PCR and, in some cases, cDNA/Southern. Deletions were detected in 24(More)
One patient with hexosaminidase A (Hx A) deficiency, which produces GM2 gangliosidosis, developed a complex progressive neurological syndrome, starting when he was 10 years old, which encompassed intellectual impairment, cerebellar involvement, features of upper and lower motoneurones compromise and sensory neuropathy without signs of motor fibre damage(More)
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