A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
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چکیده
منابع مشابه
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The ryanodine receptor 1-related congenital myopathies (RYR1-RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1-RM, our group...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2013
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2013.02.009