Myasthenic syndrome caused by plectinopathy.

ABSTRACT:

Background

Plectin crosslinks intermediate filaments to their targets in different tissues. Defects in plectin cause epidermolysis bullosa simplex (EBS), muscular dystrophy (MD), and sometimes pyloric atresia. Association of EBS with a myasthenic syndrome (MyS) was documented in a single patient in 1999.

Objectives

To analyze the clinical, structural, and genetic aspects of a second and fatal case of EBS associated with a MyS and search for the genetic basis of the disease in a previously reported patient with EBS-MD-MyS.

Methods

Clinical observations; histochemical, immunocytochemical, and electron microscopy studies of skeletal muscle and neuromuscular junction; and mutation analysis.

Results

An African American man had EBS since early infancy, and progressiv

SUBMITTER: Selcen D 

PROVIDER: S-EPMC3034415 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature