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É relatado um caso de miopatia miotubular ou centronuclear em paciente de 13 anos de idade, do sexo masculino, com história de hipotonia e ptose palpebral congênitas. Estudos clínicos, eletromiográficos e anátomopatológicos (inclusive microscopia eletrônica) evidenciaram achados comparáveis aos encontrados na revisão bibliográfica. São também discutidos os diagnósticos diferenciais e os achados de microscopia eletrônica.

A case of centronuclear or myotubular myopathy in a 13-year-old boy who was admitted with hypotonia and congenital ptosis is reported. Clinical, electromyographic and pathologic studies are discussed. A review of the electron microscopic features and comparison with our findings is included. Review of the literature disclosed near 50 cases of centronuclear myopathy. The diferential diagnosis is discussed.

Index code	Element
ti	article title
au	author
kw	article keywords
subject	subject (title words, abstract and keywords)
ab	abstract
ta	journal short title (e.g. Cad. Saúde Pública)
journal_title	journal full title (e.g. Cadernos de Saúde Pública)
la	publication language code (e.g. pt - Portuguese, es - Spanish)
type	document type
pid	publication identifier
publication_year	publication year of publication
sponsor	sponsor
aff_country	country code of the author's affiliation
aff_institution	author affiliation institution
volume	article volume
issue	article issue
elocation	elocation
doi	DOI number
issn	journal ISSN
in	SciELO colection code (e.g. scl - Brasil, col - Colômbia)
use_license	article usage license code

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