Congenital fiber-type disproportion myopathy: a case study
Congenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is inherited as an autosomal recessiv...
| Autores principales: | , , , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
| Publicado: |
UANL. Facultad de Medicina
2015
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| Materias: | |
| Acceso en línea: | http://eprints.uanl.mx/11489/1/S1665579614000027_S300_en.pdf |
| _version_ | 1824413365738405888 |
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| author | Haro Hernández, B. J. de Macouzet Sánchez, Carlos Rodríguez Balderrama, Isaías O Cavazos, Manuel Enrique de la |
| author_facet | Haro Hernández, B. J. de Macouzet Sánchez, Carlos Rodríguez Balderrama, Isaías O Cavazos, Manuel Enrique de la |
| author_sort | Haro Hernández, B. J. de |
| collection | Repositorio Institucional |
| description | Congenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is
inherited as an autosomal recessive, dominant and X-linked. It is diagnosed by clinical data confirmation, generalized hypotonia and a muscle biopsy in which muscle fibers type I are smaller in caliber, 12% smaller than those of type II and type I fibers are more common than
type II. Treatment is multidisciplinary. The following describes the case of a patient who was born in the ‘‘Dr. José Eleuterio González’’ University Hospital in Monterrey, N.L, who presented clinical and muscle biopsy
compatible with this myopathy. |
| format | Article |
| id | eprints-11489 |
| institution | UANL |
| language | English |
| publishDate | 2015 |
| publisher | UANL. Facultad de Medicina |
| record_format | eprints |
| spelling | eprints-114892016-10-28T20:33:16Z http://eprints.uanl.mx/11489/ Congenital fiber-type disproportion myopathy: a case study Haro Hernández, B. J. de Macouzet Sánchez, Carlos Rodríguez Balderrama, Isaías O Cavazos, Manuel Enrique de la RJ Pediatría Congenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is inherited as an autosomal recessive, dominant and X-linked. It is diagnosed by clinical data confirmation, generalized hypotonia and a muscle biopsy in which muscle fibers type I are smaller in caliber, 12% smaller than those of type II and type I fibers are more common than type II. Treatment is multidisciplinary. The following describes the case of a patient who was born in the ‘‘Dr. José Eleuterio González’’ University Hospital in Monterrey, N.L, who presented clinical and muscle biopsy compatible with this myopathy. UANL. Facultad de Medicina 2015 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/11489/1/S1665579614000027_S300_en.pdf http://eprints.uanl.mx/11489/1.haspreviewThumbnailVersion/S1665579614000027_S300_en.pdf Haro Hernández, B. J. de y Macouzet Sánchez, Carlos y Rodríguez Balderrama, Isaías y O Cavazos, Manuel Enrique de la (2015) Congenital fiber-type disproportion myopathy: a case study. Medicina universitaria, 17 (66). pp. 42-45. ISSN 1665-5796 |
| spellingShingle | RJ Pediatría Haro Hernández, B. J. de Macouzet Sánchez, Carlos Rodríguez Balderrama, Isaías O Cavazos, Manuel Enrique de la Congenital fiber-type disproportion myopathy: a case study |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Congenital fiber-type disproportion myopathy: a case study |
| title_full | Congenital fiber-type disproportion myopathy: a case study |
| title_fullStr | Congenital fiber-type disproportion myopathy: a case study |
| title_full_unstemmed | Congenital fiber-type disproportion myopathy: a case study |
| title_short | Congenital fiber-type disproportion myopathy: a case study |
| title_sort | congenital fiber type disproportion myopathy a case study |
| topic | RJ Pediatría |
| url | http://eprints.uanl.mx/11489/1/S1665579614000027_S300_en.pdf |
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