Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

Brennan, Kathryn M

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. [electronic resource] - Neuromuscular disorders : NMD Oct 2015 - 786-93 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1873-2364

10.1016/j.nmd.2015.07.001 doi


Charcot-Marie-Tooth Disease--genetics
Cytoskeletal Proteins--genetics
Dermis--innervation
Dystroglycans--metabolism
Exome
Humans
Male
Membrane Proteins--genetics
Middle Aged
Muscle Proteins--genetics
Myelin Sheath--pathology
Neural Conduction
Pedigree
Ubiquitin Thiolesterase--metabolism