TY - JOUR
T1 - Lissencephaly associated with congenital hypomyelinating and axonal neuropathy
AU - Nissenkorn, Andreea
AU - Weintraub, Shlomo
AU - Sadeh, Menachem
AU - Lerman-Sagie, Tally
PY - 1998/10
Y1 - 1998/10
N2 - The authors describe an 11-year-old male with severe mental retardation, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating with axonal involvement. To the best of the authors' knowledge, this is the first report involving the co-occurrence of these two developmental disorders. A viral, metabolic, or nutritional insult acting throughout the period of migration and myelination or a contiguous gene linkage are possible explanations for this disorder.
AB - The authors describe an 11-year-old male with severe mental retardation, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating with axonal involvement. To the best of the authors' knowledge, this is the first report involving the co-occurrence of these two developmental disorders. A viral, metabolic, or nutritional insult acting throughout the period of migration and myelination or a contiguous gene linkage are possible explanations for this disorder.
UR - http://www.scopus.com/inward/record.url?scp=0032191724&partnerID=8YFLogxK
U2 - 10.1016/S0887-8994(98)00063-0
DO - 10.1016/S0887-8994(98)00063-0
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AN - SCOPUS:0032191724
SN - 0887-8994
VL - 19
SP - 313
EP - 316
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 4
ER -