RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 103
OP 107
DO 10.1136/jmg.21.2.103
VO 21
IS 2
A1 A Richieri-Costa
A1 S M Garcia da Silva
A1 O Frota-Pessoa
YR 1984
UL http://jmg.bmj.com/content/21/2/103.abstract
AB 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.