Congenital lethal myopathy, Compton-North type

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Congenital lethal myopathy Compton-North type is a rare genetic lethal non-dystrophic congenital myopathy disorder characterized antenatally by fetal akinesia intrauterine growth restriction and polyhydramnios and following birth by severe neonatal hypotonia severe generalized skeletal bulbar and respiratory muscle weakness multiple flexion contractures and normal creatine kinase serum levels. Ultrastructurally loss of integrin alpha7 beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Congenital lethal myopathy, Compton-North type?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

Team Titin

Team Titin, Inc.'s mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders. To achieve this mission, we focus on four key pillars: Connection, Advocacy, Care, and Research.

ZC4H2 Research Foundation

Our Mission: The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate through research, awareness, and support. For more information, please visit https://www.zc4h2foundation.org.

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Clinical Trials

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