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- W2082050128 endingPage "24" @default.
- W2082050128 startingPage "24" @default.
- W2082050128 abstract "Muscular dystrophies are a large heterogeneous group of inherited diseases that cause progressive muscle weakness and permanent muscle damage. Very few muscular dystrophies show sufficient specific clinical features to allow a definite diagnosis. Because of the currently limited capacity to screen for numerous genes simultaneously, muscle biopsy is a time and cost-effective test for many of these disorders. Protein analysis interpreted in correlation with the clinical phenotype is a useful way of directing genetic testing in many types of muscular dystrophies. Immunohistochemistry and western blot are complementary techniques used to gather quantitative and qualitative information on the expression of proteins involved in this group of diseases. Immunoanalysis has a major diagnostic application mostly in recessive conditions where the absence of labelling for a particular protein is likely to indicate a defect in that gene. However, abnormalities in protein expression can vary from absence to very subtle reduction. It is good practice to test muscle biopsies with antibodies for several proteins simultaneously and to interpret the results in context. Indeed, there is a degree of direct or functional association between many of these proteins that is reflected by the presence of specific secondary abnormalities that are of value, especially when the diagnosis is not straightforward." @default.
- W2082050128 created "2016-06-24" @default.
- W2082050128 creator A5042498187 @default.
- W2082050128 date "2011-01-01" @default.
- W2082050128 modified "2023-10-16" @default.
- W2082050128 title "From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies" @default.
- W2082050128 cites W1551910894 @default.
- W2082050128 cites W1592698849 @default.
- W2082050128 cites W186828966 @default.
- W2082050128 cites W1964089929 @default.
- W2082050128 cites W1965932737 @default.
- W2082050128 cites W1966082194 @default.
- W2082050128 cites W1967261851 @default.
- W2082050128 cites W1969570221 @default.
- W2082050128 cites W1970270461 @default.
- W2082050128 cites W1970976112 @default.
- W2082050128 cites W1973144539 @default.
- W2082050128 cites W1973573851 @default.
- W2082050128 cites W1973821999 @default.
- W2082050128 cites W1978898259 @default.
- W2082050128 cites W1979393623 @default.
- W2082050128 cites W1980069790 @default.
- W2082050128 cites W1982218830 @default.
- W2082050128 cites W1984512133 @default.
- W2082050128 cites W1985473631 @default.
- W2082050128 cites W1986132700 @default.
- W2082050128 cites W1987180743 @default.
- W2082050128 cites W1999175386 @default.
- W2082050128 cites W2003013145 @default.
- W2082050128 cites W2003111937 @default.
- W2082050128 cites W2004740563 @default.
- W2082050128 cites W2005322384 @default.
- W2082050128 cites W2005326385 @default.
- W2082050128 cites W2006833948 @default.
- W2082050128 cites W2009145113 @default.
- W2082050128 cites W2013317654 @default.
- W2082050128 cites W2016438201 @default.
- W2082050128 cites W2016753696 @default.
- W2082050128 cites W2022340517 @default.
- W2082050128 cites W2023166695 @default.
- W2082050128 cites W2023311948 @default.
- W2082050128 cites W2023649556 @default.
- W2082050128 cites W2024364295 @default.
- W2082050128 cites W2024993897 @default.
- W2082050128 cites W2025615363 @default.
- W2082050128 cites W2026962372 @default.
- W2082050128 cites W2027221381 @default.
- W2082050128 cites W2029066095 @default.
- W2082050128 cites W2030836939 @default.
- W2082050128 cites W2030931807 @default.
- W2082050128 cites W2033375442 @default.
- W2082050128 cites W2034023993 @default.
- W2082050128 cites W2034350571 @default.
- W2082050128 cites W2039742310 @default.
- W2082050128 cites W2039772599 @default.
- W2082050128 cites W2040718007 @default.
- W2082050128 cites W2042686746 @default.
- W2082050128 cites W2043172254 @default.
- W2082050128 cites W2044964290 @default.
- W2082050128 cites W2045584862 @default.
- W2082050128 cites W2047136624 @default.
- W2082050128 cites W2049744175 @default.
- W2082050128 cites W2051060549 @default.
- W2082050128 cites W2054352668 @default.
- W2082050128 cites W2054601053 @default.
- W2082050128 cites W2056504573 @default.
- W2082050128 cites W2059035158 @default.
- W2082050128 cites W2060341690 @default.
- W2082050128 cites W2061019211 @default.
- W2082050128 cites W2061697489 @default.
- W2082050128 cites W2062628051 @default.
- W2082050128 cites W2065138313 @default.
- W2082050128 cites W2066288805 @default.
- W2082050128 cites W2066399122 @default.
- W2082050128 cites W2067754646 @default.
- W2082050128 cites W2068018243 @default.
- W2082050128 cites W2068778247 @default.
- W2082050128 cites W2069554971 @default.
- W2082050128 cites W2071244835 @default.
- W2082050128 cites W2073111593 @default.
- W2082050128 cites W2073470325 @default.
- W2082050128 cites W2075323386 @default.
- W2082050128 cites W2076930915 @default.
- W2082050128 cites W2079813425 @default.
- W2082050128 cites W2084392338 @default.
- W2082050128 cites W2086252337 @default.
- W2082050128 cites W2090977969 @default.
- W2082050128 cites W2091257308 @default.
- W2082050128 cites W2092252579 @default.
- W2082050128 cites W2095232823 @default.
- W2082050128 cites W2095470983 @default.
- W2082050128 cites W2100232018 @default.
- W2082050128 cites W2102958109 @default.
- W2082050128 cites W2105232838 @default.
- W2082050128 cites W2111500194 @default.
- W2082050128 cites W2111591442 @default.
- W2082050128 cites W2115437671 @default.
- W2082050128 cites W2116296313 @default.