Myopalladin recessive mutations cause congenital cap myopathy (S54.007)

Conclusions:Autosomal dominant mutations in MYPN gene have been reported in dilated, restrictive or hypertrophic cardiomyopathies (MIM#615248) without skeletal muscle involvement. Our findings demonstrate that recessive MYPN gene mutations cause cap myopathy. This suggests that MYPN is involved in two different diseases through different modes of inheritance.Study Supported by:This work was supported in part by the Assistance Publique-Hôpitaux de Paris (AP-HP), the Association Française contre les Myopathies (AFM), and the Association Institut de Myologie (AIM).Disclosure: Dr. Malfatti* has nothing to disclose. Dr. Lornage* has nothing to disclose. Dr. Cheraud has nothing to disclose. Dr. Schneider has nothing to disclose. Dr. Biancalana has nothing to disclose. Dr. Cuisset has nothing to disclose. Dr. Garibaldi has nothing to disclose. Dr. Eymard has nothing to disclose. Dr. Fardeau has nothing to disclose. Dr. Boland has nothing to disclose. Dr. Deleuze has nothing to disclose. Dr. Thompson has nothing to disclose. Dr. Böhm has nothing to disclose. Dr. Romero has nothing to disclose. Dr. Laporte has nothing to disclose.

Source: Neurology - April 17, 2017 Category: Neurology Authors: Malfatti, E., Lornage, X., Cheraud, C., Schneider, R., Biancalana, V., Cuisset, J.-M., Garibaldi, M., Eymard, B., Fardeau, M., Boland, A., Deleuze, J.-F., Thompson, J., Bohm, J., Romero, N. B., Laporte, J. Tags: Motor Neuron Disease and Myopathies Source Type: research