Related Experiment Video
Updated: Jul 11, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
Published on: June 15, 2018
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
Liesbeth S Smit1, Daniella Roofthooft, Fred van Ruissen
1Department of Pediatric Neurology, Erasmus MC-Sophia Children's Hospital, Dr. Molewaterplein 60, PO Box 2060, 3000 CB Rotterdam, The Netherlands. l.s.smit@erasmusmc.nl
Abstract:
Congenital hypomyelinating neuropathy is a rare condition characterized by prenatal, neonatal or early infantile onset of hypotonia, paresis and areflexia. Most of the few patients described in literature die within the first years of life. Histopathologically there are no or thin myelin sheaths. Mutations have been described in the following genes, MPZ, EGR2, PMP22, and MTMR2. Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations.

