[Congenital myopathies].

Abstract excerpt

INTRODUCTION: Congenital myopathies include many genetically distinct diseases which have in common the early appearance of symptoms and characteristic morphological findings. AIM: To resume clinical, pathological and genetic findings of the most frequent myopathies in this group. DEVELOPMENT: The most severe of these group is myotubular myopathy; affected boys die frequently in the neonatal period due to...

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