Referenced in: none

Automatically associated channels: Kir6.2

Title: Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.

Authors: Florence Martin, Veronika Kana, Andrea Capone Mori, Dirk Fischer, Nicolas Parkin, Eugen Boltshauser, Elisabeth Jane Rushing, Andrea Klein

Journal, date & volume: Eur. J. Pediatr., 2014 Dec , 173, 1691-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24706162

Abstract