Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models.
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چکیده
منابع مشابه
Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models.
Humans and mice with deficiency of the alpha2 subunit of the basement membrane protein laminin-2/merosin suffer from merosin-deficient congenital muscular dystrophy (MCMD). We have expressed a human laminin alpha2 chain transgene under the regulation of a muscle-specific creatine kinase promoter in mice with complete or partial deficiency of merosin. The transgene restores the synthesis and loc...
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Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin alpha-2 gene (LAMA2), localized to chromosome 6q22-23. The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital hypotonia, weakness, with high blood levels of creatine kinase, WM abnormalities, a...
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Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called 'pure' or 'occidental' form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital ...
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Merosin-deficient congenital muscular dystrophy is an autosomal recessive disease that can manifest differently in different ethnic groups. This often presents as a floppy infant, and normal mental development. The creatine kinase is usually elevated with white matter abnormalities on brain imaging. In this report, we describe an infant with Merosin-deficient congenital muscular dystrophy who p...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1998
ISSN: 0021-9738
DOI: 10.1172/jci3705