Spinal muscular atrophy variant with con
✍
Kelly, Thaddeus E.; Amoroso, Kathy; Ferre, Merry; Blanco, John; Allinson, Patric
📂
Article
📅
1999
🏛
John Wiley and Sons
🌐
English
⚖ 11 KB
👁 1 views
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