Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

• DOI: 10.1016/j.nmd.2007.07.011
• Publication Date: 2007-09-07T09:22:02Z
• Authors: Liesbeth S. Smit; Daniella Roofthooft; Fred van Ruissen; Frank Baas; Pieter A. van Doorn
• Keywords: Adult; Genetic Markers; Male; 0301 basic medicine; Heterozygote; Time Factors; DNA Mutational Analysis; EMC MM-03-54-04-A; Neural Conduction; 03 medical and health sciences; Humans; Genetic Testing; Peripheral Nerves; Myelin Sheath; Electromyography; Infant, Newborn; Peripheral Nervous System Diseases; EMC MM-04-44-02; 3. Good health; Microscopy, Electron; Mutation; Female; Myelin P0 Protein; Demyelinating Diseases; Follow-Up Studies

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.