G.P.46 Screening for deletion and duplication mutations in genes implicated in LGMD

Abstract LGMD is predominantly inherited in an autosomal recessive manner; however autosomal dominant and X-linked subtypes have also been described. To date, most mutations that have been reported in LGMD patients have been point mutations, and these lie in approximately 17 genes. There are occasio...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2012-10, Vol.22 (9), p.833-833
Hauptverfasser:	Roxburgh, R.H, Marquis-Nicholson, R, Hutchinson, D.O, Waddell, L.B, Clarke, N.F, North, K.N, Love, D.R
Format:	Artikel
Sprache:	eng
Schlagworte:	Indexing in process Neurology
Online-Zugang:	Volltext
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