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.

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doi.org/10.1016/j.nmd.2007.07.011, hdl.handle.net/1765/30043
Neuromuscular Disorders
Erasmus MC: University Medical Center Rotterdam

Smit, L.S, Roofthooft, D.W.E, van Ruissen, F, Baas, F, & van Doorn, P.A. (2008). Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family. Neuromuscular Disorders, 18(1), 59–62. doi:10.1016/j.nmd.2007.07.011