Titlebook: Genetic Neuromuscular Disorders; A Case-Based Approac Corrado Angelini Book 2018Latest edition Springer International Publishing Switzerlan

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Franz Hildebrandt,Joseph Mathieu find patients with deletion in the dystrophin gene that have normal strength and endurance but high CK. Specific cases with early cardiomyopathy are also a variant of BMD and may be susceptible to cardiac transplantation.

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Registrieranlage und Registriertechnik,sed by mutations in the LMNA gene (Table 5.1), which encodes lamin A/C localized to the nuclear envelope. The gene undergoes an alternative splicing encoding at least four different RNAs and related proteins. There is a striking frequency of de novo mutation, and therefore many cases might appear as sporadic.