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TRPV4mutations in children with congenital distal spinal muscular atrophy

✍ Scribed by Chiara Fiorillo,Francesca Moro,Giacomo Brisca,Guja Astrea…

Book ID
126347200
Publisher
Springer
Year
2012
Tongue
English
Weight
473 KB
Volume
13
Category
Article
ISSN
1364-6745

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A single report of brothers born to firstcousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and