Charcot–Marie–Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family

摘要: Charcot- Marie-Tooth disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot-Marie-Tooth 2, characterized by diaphragm vocal cord paralysis, labelled 2C but no genetic locus has been mapped for this form. We describe the first European family affected 2C. Genetic analysis excluded linkage to 2A, B, D, E F, distal hereditary motor neuronopathy VII. In high penetrance, variable severity apparently most severe limb muscle involvement in youngest generation. Vocal paralysis unrelated degree muscular weakness patients with have absent or minimal respiratory symptoms. different from not allelic