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Sporadic Centronuclear Myopathy with Muscle Pseudohypertrophy, Neutropenia, and Necklace Fibers due to a DNM2 mutation

Dynamin 2 gene (DNM2) mutations result in an autosomal dominant centronuclear myopathy (CNM) and a Charcot-Marie-Tooth (CMT) neuropathy. DNM2-CMT but not DNM2-CNM patients were noted to have neutropenia. We here report a man with paravertebral muscles hypertrophy and mild neutropenia. His muscle bio...

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Detalhes bibliográficos
Main Authors: Liewluck, Teerin, Lovell, Tracy L., Bite, Anna V., Engel, Andrew G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2991611/
https://ncbi.nlm.nih.gov/pubmed/20817456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.07.273
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