XXXX caused by plectinopathy.

@entity1 @entity154 @entity3986 @entity73172 @entity65847 @entity425 @entity16246 @entity34793 @entity73174 @entity8491 @entity460 @entity1146 @entity73173 @entity121
BACKGROUND: @entity16246 crosslinks intermediate filaments to their targets in different tissues. Defects in @entity16246 cause epidermolysis bullosa simplex (EBS), @entity3986 ( @entity3986 ), and sometimes pyloric @entity1146 . Association of EBS with a @entity8491 ( @entity8491 ) was documented in a single @entity1 in 1999. OBJECTIVES: To analyze the clinical, structural, and genetic aspects of a second and fatal case of EBS associated with a @entity8491 and search for the genetic basis of the disease in a previously reported @entity1 with @entity65847 . METHODS: Clinical observations; histochemical, immunocytochemical, and electron microscopy studies of skeletal muscle and neuromuscular junction; and mutation analysis. RESULTS: An African American @entity1 had EBS since early infancy, and progressive @entity425 , @entity34793 , and myasthenic symptoms refractory to therapy since age 3 years. Eventually he became motionless and died at age 42 years. At age 15 years, he had a marked EMG decrement, and a reduced miniature endplate potential amplitude. The @entity121 was associated with dislocated muscle fiber organelles, structurally abnormal nuclei, focal @entity154 , and focal @entity460 ingress into muscle fibers. The neuromuscular junctions showed destruction of the junctional folds, and remodeling. Mutation analysis demonstrated a known @entity73172 and a novel @entity73173 mutation in @entity16246 . The @entity65847 @entity1 reported in 1999 also carried @entity73173 and a novel @entity73174 mutation. The novel mutations were absent in 200 Caucasian and 100 African American subjects. CONCLUSIONS: The @entity8491 in plectinopathy is attributed to destruction of the junctional folds and the @entity121 to defective anchoring of muscle fiber organelles and defects in sarcolemmal integrity.
