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An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)

โœ Scribed by Satoshi Kuru; Motoko Sakai; Masaaki Konagaya; Mari Yoshida; Yoshio Hashizume; Kayoko Saito


Book ID
108958049
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
344 KB
Volume
29
Category
Article
ISSN
0919-6544

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Spinal muscular atrophy (SMA) or Werdnig-Hoffmann disease is the second most common neuromuscular disease, with 25% of cases presenting in infancy. Deletions in the survival motor neuron gene are believed responsible for autosomal-recessive SMA. SMA affects about 1 in 10,000 births. Symptomatic newb