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X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

✍ Scribed by Catarina M. Quinzii; Tuan H. Vu; K. Christopher Min; Kurenai Tanji; Sandra Barral; Raji P. Grewal; Andrea Kattah; Pilir Camaño; David Otaegui; Teruhito Kunimatsu; David M. Blake; Kirk C. Wilhelmsen; Lewis P. Rowland; Arthur P. Hays; Eduardo Bonilla; Michio Hirano


Book ID
116195571
Publisher
American Society of Human Genetics
Year
2008
Tongue
English
Weight
542 KB
Volume
82
Category
Article
ISSN
0002-9297

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X-linked spastic paraplegia due to a mut
✍ Hodes, M.E.; Hadjisavvas, Andreas; Butler, Ian J.; Aydanian, Antonina; Dlouhy, S 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 1 views

A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the substitution of phenylalanine for serine 169, which is in the third transmembrane domain of the proteolipid protein molecule. The mutation apparently arose de novo,