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Archive ouverte | Gayi, Elinam | CCSD

X-linked myotubular myopathy (XLMTM, also known as XLCNM) is a severe congenital muscular disorder due to mutations in the myotubularin gene, MTM1. It is characterized by generalized hypotonia, leading to neonatal death of most pa...

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Archive ouverte | Prola, Alexandre | CCSD

International audience

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Archive ouverte | Fischer, Dirk | CCSD

International audience. Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres. Recently, different missense mu...

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