Article
Congenital myopathies: not only a paediatric topic.
Current opinion in neurology - 1 Oct 2016
Jungbluth Heinz, Voermans Nicol C
Abstract excerpt
PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and nemaline myopathy - with an emphasis on common genetic backgrounds, typical clinicopathological features and differential diagnosis. RECENT FINDINGS: The congenital myopathies are a genetically heterogeneous group of conditions with characteristic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.