X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.
Cox
K
K
Gattas
M
M
Harvey
P
P
Dolphin
C
C
Friend
K
K
Yu
S
S
D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin