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P3.40 Myopathy in a woman and her daughter associated with a novel MTM1 mutation

✍ Scribed by C. Hedberg; C. Lindberg; M. Máthé; A.R. Moslemi; A. Oldfors


Book ID
116795116
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
48 KB
Volume
21
Category
Article
ISSN
0960-8966

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✍ Andrew Donnelly; Eric Haan; James Manson; John Mulley 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 2 views

The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband a