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Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

✍ Scribed by Carolin Schmidt; Angela Abicht; Klaus Krampfl; Wolfgang Voss; Rolf Stucka; Gina Mildner; Sofia Petrova; Ulrike Schara; Wilhelm Mortier; Johannes Bufler; Angela Huebner; Hanns Lochmüller

Book ID: 117669715
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 254 KB
Volume: 13
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(02)00273-0

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## Abstract We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large ears, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficien