Establishing prevalence in rare neuromuscular diseases
نویسندگان
چکیده
منابع مشابه
Establishing prevalence in rare neuromuscular diseases
Congenital myopathies (CMs) are a heterogeneous group of early-onset muscle disorders with weakness, distinct histopathologic features, and normal to slightly elevated creatine kinase (CK). The age at onset and clinical severity can be variable, ranging from severely affected at birth to a milder later-onset disease. Cardiac involvement has been reported. CMs are generally considered nonprogres...
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New therapies developed over the past 3 years for previously intractable diseases of skeletal muscle, neuromuscular junctions, peripheral nerves, and motor neurons are now being incorporated into our standard neuromuscular clinical practice. The past 3 years were also marked by important advances in our understanding of the pathogenesis and pathophysiology of inherited and acquired neuromuscula...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2017
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000146