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Peroneal muscular atrophy with parkinsonism, ptosis, and congenital strabismus

✍ Scribed by U. Scoditti; F. Gemignani; F. Colonna; L. Ludovico; L. Bettoni

Book ID
114783977
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
272 KB
Volume
88
Category
Article
ISSN
0001-6314

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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