Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
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.
Smit
Liesbeth S
LS
Department 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
Roofthooft
Daniella
D
van Ruissen
Fred
F
Baas
Frank
F
van Doorn
Pieter A
PA
D000328:Adult; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D009154:Mutation / Q000235:genetics; D018993:Myelin P0 Protein / Q000235:genetics; D009186:Myelin Sheath / Q000473:pathology*; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000473:pathology* / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D013997:Time Factors