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

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
DOI: 10.1016/j.nmd.2007.07.011 Publication Date: 2007-09-07T09:22:02Z
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.
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