Centronuclear myopathies

Semin Pediatr Neurol. 2011 Dec;18(4):250-6. doi: 10.1016/j.spen.2011.10.006.

Authors

Norma B Romero¹, Marc Bitoun

Affiliation

¹ Unit of Neuromuscular Morphology, Institute of Myology, Inserm UMRS 974, CNRS UMR 7215, UPMC-University Paris 6 UM76, GHU Pitié-Salpêtrière, France. m.bitoun@institut-myologie.org

PMID: 22172420
DOI: 10.1016/j.spen.2011.10.006

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Adolescent
Child
Child, Preschool
Desmin / genetics
Female
Genes, Recessive
Genetic Diseases, X-Linked / genetics
Genetic Diseases, X-Linked / pathology
Humans
Infant
Infant, Newborn
Male
Mutation
Myopathies, Structural, Congenital / congenital
Myopathies, Structural, Congenital / genetics*
Myopathies, Structural, Congenital / pathology*

Substances

Desmin