Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy.
We report on the first case of X-linked recessive myotubular myopathy (MTM1) coinciding with Duchenne muscular dystrophy (DMD). The muscle biopsy specimens of the patient show only the characteristic findings of MTM1, without the findings of DMD. We theorize that this was caused by the muscle fiber immaturity and inactivity.
Kimura
S
S
Department of Child Development, Kumamoto University School of Medicine, Japan.
Sugino
S
S
Ohtani
Y
Y
Matsukura
M
M
Nishino
I
I
Ikezawa
M
M
Sakata
A
A
Kondo
Y
Y
Yoshioka
K
K
Huard
J
J
Nonaka
I
I
Miike
T
T
D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D017353:Gene Deletion; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008297:Male; D024510:Muscle Development; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D009336:Necrosis; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D014960:X Chromosome
D016189:Dystrophin; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin