休息
发表于 2025-3-23 10:58:23
https://doi.org/10.1007/978-3-0348-5409-2 age at onset of muscle weakness ranges between 2 and 40 years (in average 15 years). The first clinical symptoms are usually difficulty in running, the tendency to walk on tiptoes, and scapular winging caused by weakness of scapular girdle muscles. Weakness and wasting of the hip adductors/extensor
motor-unit
发表于 2025-3-23 15:54:06
https://doi.org/10.1007/978-3-642-70952-4nging, and slight decrease in proximal muscle strength and became wheelchair dependent at age 14; another girl had frequent falls, toe walking, large calves, and difficulty with stairs at age 22 months. Few other cases have been reported, but all the LGMD2F patients reported so far show a Duchenne-l
ascend
发表于 2025-3-23 19:22:38
https://doi.org/10.1007/978-3-663-02153-7n several patients. Muscle involvement in LGMD2I includes proximal distribution of weakness in the limbs, with the hips more affected than the shoulders. Calf muscle hypertrophy is common. FKRP mutations have also been reported in a severe form of congenital muscular dystrophy (MDC1C) and in congeni
fulmination
发表于 2025-3-24 01:59:22
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Insufficient
发表于 2025-3-24 04:36:23
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Debrief
发表于 2025-3-24 08:00:41
Franz Hildebrandt,Joseph Mathieuion of clinical phenotypes associated with deletion or duplication of the dystrophin gene, and several different clinical entities were described with associated different prognosis according to the localization of mutation and residual amount of dystrophin protein..Among these are hyperCKemia with
词根词缀法
发表于 2025-3-24 12:17:06
https://doi.org/10.1007/978-3-662-43019-4atrophy (initially with a humero-peroneal distribution but later becoming more diffuse); joint contractures of the Achilles, elbow, and neck tendons, beginning during early childhood and leading to limited joint movement; and cardiac anomalies (conduction defects, rhythm disturbances, and dilated ca
muffler
发表于 2025-3-24 15:08:39
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喷油井
发表于 2025-3-24 21:37:26
https://doi.org/10.1007/978-3-663-06935-5cipation phenomenon has initially suggested that the disorder was the result of the expansion of an unstable trinucleotide repeat . In 2000 the causative gene encoding for myotilin (.) was isolated, and the first mutations were identified . Myotilin is a sarcomeric protein that binds to alp
宠爱
发表于 2025-3-24 23:56:33
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