Central core myopathy with autophagy.
Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
Ana
A
Cotta
Department of Pathology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
Julia F
JF
Paim
Department of Genetics and Evolutionary Biology, Human Genome and Stem Cells Research Center IBUSP, University of São Paulo, Rua do Matão, Travessa 13, No. 106, São Paulo, SP, 05508-090, Brazil.
Rita De C M
RCM
Pavanello
Department of Genetics and Evolutionary Biology, Human Genome and Stem Cells Research Center IBUSP, University of São Paulo, Rua do Matão, Travessa 13, No. 106, São Paulo, SP, 05508-090, Brazil.
Leticia
L
Nogueira
Department of Genetics and Evolutionary Biology, Human Genome and Stem Cells Research Center IBUSP, University of São Paulo, Rua do Matão, Travessa 13, No. 106, São Paulo, SP, 05508-090, Brazil.
Leonardo G
LG
Leão
Department of Neurology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
Rafael
R
Xavier-Neto
Department of Pediatrics and Genetics, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
Monica M
MM
Navarro
Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
Elmano
E
Carvalho
Department of Neurophysiology, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil.
Jaquelin
J
Valicek
Department of Electron Microscopy, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil.
Eni B
EB
Silveira
Department of Molecular Biology, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil.
Reinaldo I
RI
Takata
Department of Genetics and Evolutionary Biology, Human Genome and Stem Cells Research Center IBUSP, University of São Paulo, Rua do Matão, Travessa 13, No. 106, São Paulo, SP, 05508-090, Brazil.
Mariz
M
Vainzof
D000328:Adult; D001343:Autophagy / Q000502:physiology*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009154:Mutation; D020512:Myopathy, Central Core / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics* / Q000378:metabolism
D019837:Ryanodine Receptor Calcium Release Channel
RYR1; autophagy; central core myopathy; congenital myopathy; muscle histopathology