Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.
Zanoteli
Edmar
E
Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil. zanoteli@terra.com.br
Laporte
Jocelyn
J
Rocha
José C C
JC
Kretz
Christine
C
Oliveira
Acary S B
AS
Mandel
Jean-Louis
JL
Perez
Ana B A
AB
Gabbai
Alberto A
AA
Buj-Bello
Anna
A
D015139:Blotting, Southern; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
C116467:MTMR1 protein, human; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin