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

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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

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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

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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

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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

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Springer International Publishing Switzerland 2014

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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.

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