TY - JOUR
T1 - Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
AU - Smit, Liesbeth S.
AU - Roofthooft, Daniella
AU - van Ruissen, Fred
AU - Baas, Frank
AU - van Doorn, Pieter A.
PY - 2008
Y1 - 2008
N2 - 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
AB - 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
U2 - https://doi.org/10.1016/j.nmd.2007.07.011
DO - https://doi.org/10.1016/j.nmd.2007.07.011
M3 - Article
C2 - 17825553
SN - 0960-8966
VL - 18
SP - 59
EP - 62
JO - Neuromuscular disorders
JF - Neuromuscular disorders
IS - 1
ER -