完成才会征服
发表于 2025-3-28 17:48:34
https://doi.org/10.1007/978-3-662-43018-7ne, encoding the delta-sarcoglycan protein (Table 14.1), it belongs to the group of disorders named sarcoglycanopathies, in which a mutation in any one sarcoglycan gene results in the secondary deficiency of the entire sarcoglycan complex. In most populations, delta-sarcoglycanopathy is the least co
BUDGE
发表于 2025-3-28 21:00:42
https://doi.org/10.1007/978-3-662-42578-7ich is involved in alpha-dystroglycan glycosylation, a process that is required for its functional activity as a receptor of extracellular matrix component. Loss of dystroglycan function may underlie muscle weakness and cardiomyopathy. The altered membrane structure is not related to a loss of a str
BILL
发表于 2025-3-28 23:51:09
https://doi.org/10.1007/978-3-662-26478-2of alpha-dystroglycan. This disorder represents the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The phenotype is characterized by weakness apparent after walking is achieved; mental retardation and mild brain anomalies are variable. The
橡子
发表于 2025-3-29 06:20:15
https://doi.org/10.1007/978-3-322-91962-5lar dystrophy-dystroglycanopathy with brain and eye anomalies and congenital muscular dystrophy with mental retardation. The onset of weakness occurs after ambulation is achieved. Of the few patients so far reported, one had onset at 18 months, achieved walking, and had increased serum creatine kina
意见一致
发表于 2025-3-29 09:03:22
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Indigence
发表于 2025-3-29 12:51:23
Springer International Publishing Switzerland 2014
Erythropoietin
发表于 2025-3-29 19:32:32
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APEX
发表于 2025-3-29 20:42:09
Theoretische Verortung der Studie,ndings (CK is 100–200 times the normal), and a complete absence of the dystrophin protein in muscle. Genetic analysis shows a frameshift deletion/duplication or null mutations in the DMD gene, offering crucial data for prenatal diagnosis.
邪恶的你
发表于 2025-3-30 02:48:27
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爱国者
发表于 2025-3-30 04:27:08
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