Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?
Clin Neuropathol
; 33(1): 61-4, 2014.
Article
en En
| MEDLINE
| ID: mdl-23924754
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tropomiosina
/
Fibras Musculares de Contracción Lenta
/
Miopatías Estructurales Congénitas
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Mutación
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Clin Neuropathol
Año:
2014
Tipo del documento:
Article