Schwartz–Jampel syndrome

Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.

Bibliographic Details
Main Authors: Chandra, Sadanandavalli Retnaswami, Issac, Thomas Gregor, Gayathri, N., Shivaram, Sumanth
Format: Online
Language:English
Published: Medknow Publications & Media Pvt Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/