emirates.net.ae Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for ...
Diagnosis Recessive myotonia congenita (Becker's disease). Management Explanation of the nature of the disease and treatment with mexiletine 200 mg twice daily.
inserm.fr Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our ...
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