Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
β Scribed by Andrea Klein; Suzanne Lillis; Iulia Munteanu; Mariacristina Scoto; Haiyan Zhou; Ros Quinlivan; Volker Straub; Adnan Y. Manzur; Helen Roper; Pierre-Yves Jeannet; Wojtek Rakowicz; David Hilton Jones; Uffe Birk Jensen; Elizabeth Wraige; Natalie Trump; Ulrike Schara; Hanns Lochmuller; Anna Sarkozy; Helen Kingston; Fiona Norwood; Maxwell Damian; Janbernd Kirschner; Cheryl Longman; Mark Roberts; Michaela Auer-Grumbach; Imelda Hughes; Kate Bushby; Caroline Sewry; Stephanie Robb; Stephen Abbs; Heinz Jungbluth; Francesco Muntoni
- Book ID
- 112099720
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 326 KB
- Volume
- 33
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati