Title: Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
Authors: Bevilacqua, J A ×
Monnier, N
Bitoun, M
Eymard, B
Ferreiro, A
Monges, S
Lubieniecki, F
Taratuto, A L
Laquerrière, A
Claeys, Kristl
Marty, I
Fardeau, M
Guicheney, P
Lunardi, J
Romero, N B #
Issue Date: Apr-2011
Publisher: Blackwell Scientific Publications
Series Title: Neuropathology and Applied Neurobiology vol:37 issue:3
Article number: 10.1111/j.1365-2990.2010.01149.x
Abstract: To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine receptor channel (RYR1).
ISSN: 0305-1846
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Faculty of Medicine - miscellaneous
× corresponding author
# (joint) last author

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