Asymptomatic hyperCKemia in old age as a presentation form of a mutation in the ANO5 gene, 8-years of follow-up
HiperCKemia asintomática de debut en la senectud como forma de presentación de una mutación en gen ANO5, 8 años de seguimiento
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Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum
Background Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from […]
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Volumetric measurement of the hippocampus in a series of patients with Alzheimer disease
Background Hippocampal volume is recognised as a surrogate imaging biomarker for the study of Alzheimer's disease (AD). However, in Cuba there are no antecedents of its use. The objective of this research was to establish […]
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Nuevas tecnologías genómicas y su aplicación en pediatría
El desarrollo de tecnologías genómicas ha transformado la práctica de la pediatría, permitiendo avances significativos en el diagnóstico de enfermedades genéticas, el 70% de las cuales comienzan en la infancia. Las variaciones genómicas, que van […]