Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?
Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene. Very narrow myotube-like Type 1 fibers with single nuclei decorated by cap structures seem to be a result of a failure in fusion process and mature fiber formation. Repeated mutations in exon 5 of TPM3 gene giving cap structures may be a different consequence of the loss of specific isoform normally operating in the fusion process and sarcomer formation.
Anna
A
Fidzianska
Agnieszka
A
Madej-Pilarczyk
Irena
I
Hausmanowa-Petrusewicz
D002648:Child; D006801:Humans; D008297:Male; D018657:Muscle Fibers, Slow-Twitch / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*; D014335:Tropomyosin / Q000235:genetics*
C498783:TPM3 protein, human; D014335:Tropomyosin