retort 发表于 2025-3-21 19:06:52

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extinguish 发表于 2025-3-21 23:49:33

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喃喃而言 发表于 2025-3-22 01:16:44

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ALIAS 发表于 2025-3-22 05:05:02

Heinrich Freiherrn von Bretfeldearly loss of ambulation. The causative gene has been identified as the SGCG, encoding gamma-sarcoglycan protein (Table 11.1). Mutations in such families were described in 1995, and since then a number of patients have been identified.

Boycott 发表于 2025-3-22 10:26:07

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过去分词 发表于 2025-3-22 14:29:00

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过去分词 发表于 2025-3-22 17:51:51

Emery-Dreifuss Muscular Dystrophy Type 2sed 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 RNA and related proteins. There is a striking frequency of de novo mutation, and therefore many cases might appear as sporadic.

有危险 发表于 2025-3-22 22:31:01

Limb-Girdle Muscular Dystrophy Type 2Cearly loss of ambulation. The causative gene has been identified as the SGCG, encoding gamma-sarcoglycan protein (Table 11.1). Mutations in such families were described in 1995, and since then a number of patients have been identified.

CLASH 发表于 2025-3-23 03:36:50

Limb-Girdle Muscular Dystrophy Type 2Kously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation.

LEVY 发表于 2025-3-23 06:13:31

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查看完整版本: Titlebook: Genetic Neuromuscular Disorders; A Case-Based Approac Corrado Angelini Book 20141st edition Springer International Publishing Switzerland 2