TY - JOUR T1 - Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. JF - Journal of Medical Genetics JO - J Med Genet SP - 103 LP - 107 DO - 10.1136/jmg.21.2.103 VL - 21 IS - 2 AU - A Richieri-Costa AU - S M Garcia da Silva AU - O Frota-Pessoa Y1 - 1984/04/01 UR - http://jmg.bmj.com/content/21/2/103.abstract N2 - Four sibs of non-consanguineous parents who had myotonia from late infancy are described. Mild to moderate mental retardation, severe bone abnormalities of the vertebral column (mainly in the thoracolumbar region), and short stature were also observed. Autosomal recessive inheritance is demonstrated. These cases are compared with reported cases of the Schwartz-Jampel syndrome. ER -