Neonatal fractures as a presenting feature of LMOD3 -associated congenital myopathy
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چکیده
منابع مشابه
LMOD3: the “missing link” in nemaline myopathy?
Understanding of disease pathogenesis and the development of effective therapies for inherited muscle disorders requires identification of the genes responsible and the role of the associated proteins within skeletal muscle. Nemaline myopathy (NM) is one of the most common forms of congenital-onset myopathy and provides an excellent example of how mutations in many skeletal muscle genes can lea...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2017
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.38383