Sequential muscle biopsy changes in a case of congenital myopathy

Autor:	M J, Danon, C S, Giometti, J R, Manaligod, C, Swisher
Rok vydání:	1997
Předmět:	Male Microscopy Electron Muscular Diseases Biopsy Muscle Fibers Skeletal Diseases in Twins Humans Infant
Zdroj:	Musclenerve. 20(5)
ISSN:	0148-639X
Popis:	Muscle biopsies at age 7 months in a set of dizygotic male twins born floppy showed typical features of congenital fiber-type disproportion (CFTD). One of the twins died at age 1 year due to respiratory complications. The second one subsequently developed facial diplegia and external ophthalmoplegia. He never walked, remained wheelchair bound, and required continuous ventilatory support. He underwent repeat biopsies at ages 2 and 4, which showed many atrophic type 1 muscle fibers containing central nuclei and severe type 2 fiber deficiency compatible with centronuclear myopathy (CNM). Two-dimensional gel electrophoresis of muscle showed decreases of type II myosin light chains 2 and 3, suggestive of histochemical type I fiber deficiency. The progressive nature of morphological changes in one of our patients cannot be explained by maturational arrest. Repeat biopsies in cases of CFTD with rapid clinical deterioration may very well show CNM.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::ff4a7f2738033feee47218bc896b56e5 https://pubmed.ncbi.nlm.nih.gov/9140362 Zobrazit plný text záznamu Plný text