Article
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
Neuromuscular disorders : NMD - 1 Jun 2013
van der Kooi Anneke J, Ten Dam Leroy, Frankhuizen Wendy S, Straathof Chiara S M, van Doorn Pieter A, de Visser Marianne, Ginjaar Ieke B
Abstract excerpt
A Dutch cohort of 105 limb girdle muscular dystrophy (LGMD) patients were subject to subsequent genetic investigations. In half the families a causative mutation was found. Recently mutations were identified in ANO5 causing LGMD2L and Miyoshi-like myopathy (MMD3), but could also be found in patients with hyperCKemia only. Therefore, we analysed the index cases of the remaining 31 as yet undiagnosed families from...
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