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
AUTHORS (5)
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.
SUPPLEMENTAL MATERIAL
Coming soon ....
REFERENCES (19)
CITATIONS (16)
EXTERNAL LINKS
PlumX Metrics
RECOMMENDATIONS
FAIR ASSESSMENT
Coming soon ....
JUPYTER LAB
Coming soon ....