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LAMA2 muscular dystrophy (LAMA2-MD) is a genetically determined muscle disease caused by pathogenic mutations in the LAMA2 gene. It is a subtype of a larger group of genetic muscle diseases known collectively as congenital muscular dystrophies.
Each line of mouse has different functional and nonfunctional cells, making each suited for different experiments. [ 2 ] In particular, it has been observed that SCID mice with an added mutation for interleukin-2 receptor common gamma chain (IL2Rγ) are better able to accept transplantation of human HSC and create human B and T cells.
Humoral immune deficiency (including B cell deficiency or dysfunction), with signs or symptoms depending on the cause, but generally include signs of hypogammaglobulinemia (decrease of one or more types of antibodies) with presentations including repeated mild respiratory infections, and/or agammaglobulinemia (lack of all or most antibody production) which results in frequent severe infections ...
There is a broad spectrum of clinical manifestations ranging from cardiomyopathy, developmental delays, [4] leukodystrophy, necrotizing encephalopathy, respiratory failure, hypotonia, [6] cerebral palsy and failure to thrive. [17] Carnitine deficiency is found in about 50% of cases. [18]
LECT2 amyloidosis (ALECT2) was the third most common (~3% of total) cause of amyloidosis in a series of >4,000 individuals studied at the Mayo Clinic in the United States. However, LECT2 amyloidosis has a strong ethnic bias, afflicting particularly Mexicans and to a lesser extent, non-Mexican Hispanics.
Prognosis depends on the individual form of muscular dystrophy. Some dystrophies cause progressive weakness and loss of muscle function, which may result in severe physical disability and a life-threatening deterioration of respiratory muscles or heart. Other dystrophies do not affect life expectancy and only cause relatively mild impairment. [2]
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GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental GATA2 genes. Because the gene is haploinsufficient, mutations that cause a reduction in cellular levels of the gene's product, GATA2, are autosomal dominant.