Throttle 发表于 2025-3-30 10:16:55

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半圆凿 发表于 2025-3-30 15:03:43

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jungle 发表于 2025-3-30 20:11:35

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.

摇摆 发表于 2025-3-30 21:16:19

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.
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查看完整版本: Titlebook: Genetic Neuromuscular Disorders; A Case-Based Approac Corrado Angelini Book 2018Latest edition Springer International Publishing Switzerlan