Proximal spinal muscular atrophy: current orthopedic perspective
نویسندگان
چکیده
منابع مشابه
Proximal spinal muscular atrophy: current orthopedic perspective
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN) protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enh...
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ژورنال
عنوان ژورنال: The Application of Clinical Genetics
سال: 2013
ISSN: 1178-704X
DOI: 10.2147/tacg.s53615