Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.
Copley
LaRae M
LM
Zhao
Wei D
WD
Kopacz
Kevin
K
Herman
Gail E
GE
Kioschis
Petra
P
Poustka
Annemarie
A
Taudien
Stefan
S
Platzer
Matthias
M
D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D014960:X Chromosome / Q000235:genetics*
D004247:DNA; C116467:MTMR1 protein, human; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor