Genetic testing for myotubular myopathy despite muscle biopsy without centrally located nuclei.
Foye
Patrick M
PM
D002648:Child; D005820:Genetic Testing; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin