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Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI

Archive ouverte | Dabaj, I. | CCSD

International audience. Mutations in the MYH7 gene are implicated in a heterogeneous group of diseases including Laing distal myopathy. We present 8 patients (M:F ratio = 5:3) with different mutations in the MYH7 ge...

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Archive ouverte | González-Jamett, A. | CCSD

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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

Archive ouverte | Azzedine, H. | CCSD

International audience. Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, a dem...

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