Quadriceps myopathy caused by skeletal muscle-specific ablation of βcyto-actin
نویسندگان
چکیده
منابع مشابه
Quadriceps myopathy caused by skeletal muscle-specific ablation of β(cyto)-actin.
Quadriceps myopathy (QM) is a rare form of muscle disease characterized by pathological changes predominately localized to the quadriceps. Although numerous inheritance patterns have been implicated in QM, several QM patients harbor deletions in dystrophin. Two defined deletions predicted loss of functional spectrin-like repeats 17 and 18. Spectrin-like repeat 17 participates in actin-filament ...
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Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. At that time, only 15 different missense mutations were known in ACTA1. More than 60 mutations have now been identified. This review analyses this larger spectrum of mutations in ACTA1. It in...
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ژورنال
عنوان ژورنال: Journal of Cell Science
سال: 2011
ISSN: 1477-9137,0021-9533
DOI: 10.1242/jcs.079848