Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy

Mutations in the LMNA gene encoding the nuclear envelope protein, lamins A and C, have been associated with at least nine distinct disorders now called laminopathies, including Emery–Dreifuss muscular dystrophy and Charcot–Marie–Tooth type 2 disease. We identified a novel mutation in the 5′ region o...

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