We report here the identification of nine novel IGHMBP2 mutations in five SMARD1 patients, including seven missense [ c.587A&gt;G (p.Gln196Arg), c.647C&gt;T (p.Pro216Leu), c.752T&gt;C (p.Leu251Pro), c.1693G&gt;A (p.Asp565Asn), c.1730T&gt;C (p.Leu577Pro), c.1807C&gt;T (p.Arg603Cys), c.1909C&gt;T (p.Arg637Cys)] and two nonsense mutations [ c.1488C&gt;A (p.Cys496X), c.2368C&gt;T (p.Arg790X)].
C1858517
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1