Disease: Myotonia mental retardation skeletal anomalies
- Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome
- Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms
- Myotonic Dystrophy Type 1
- Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle
- Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant
- Siblings of Schwartz-Jampel syndrome with abnormal muscle computed tomographic findings