Encontrado 1 documento, a visualizar página 1 de 1

Expanding the mutation spectrum of the MTM1 gene: the first multi-exonic duplic...

Centronuclear myopathies (CNM) are a group of diseases with variable onset and severity sharing as a distinctive histological feature, a high frequency of muscle fibers with centralized nuclei. Myotubular myopathy (MIM#310400) the X-linked form of CNM is characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin, a prot...