Identification of a desmin gene mutation in scapuloperoneal syndrome

Objective: To delineate the genetic basis of scapuloperoneal syndrome type Kaeser. Background: In 1965, one of the authors reported a kindred with 12 affected members in 5 generations following autosomal dominant inheritance. Age at onset was between 30 and 50 years and followed a slowly progressive course. Histological exmination at autopsy in 1 patient suggested a neurogenic origin, similar to Kugelberg-Welander muscular atrophy. Scapuloperoneal syndrome is a descriptive term comprising various myopathies and muscular atrophies. We examined two affected descendants of the original kindred diagnosed as scapulop…