Abstract
We describe a patient with congenital hypomyelination neuropathy. The pathological and morphometrical findings in the sural nerve biopsy were consistent with a defect of myelin formation and maintenance. Direct sequence analysis of the genomic regions coding the peripheral myelin proteins P0 and PMP22 disclosed a heterozygous missense point mutation that leads to a Ser72Leu substitution in the second transmembrane of PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-Sottas syndrome and including congenital hypomyelination neuropathy. Copyright (C) 1999 Elsevier Science B.V.
| Original language | English |
|---|---|
| Pages (from-to) | 257-261 |
| Number of pages | 5 |
| Journal | Neuromuscular Disorders |
| Volume | 9 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Jun 1 1999 |
Fingerprint
Keywords
- Congenital hypomyelination neuropathy
- Dejerine-Sottas disease
- Hypomyelination
- PMP22
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience
- Neurology
Cite this
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. / Simonati, A.; Fabrizi, G. M.; Pasquinelli, A.; Taioli, F.; Cavallaro, T.; Morbin, M.; Marcon, G.; Papini, M.; Rizzuto, N.
In: Neuromuscular Disorders, Vol. 9, No. 4, 01.06.1999, p. 257-261.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
AU - Simonati, A.
AU - Fabrizi, G. M.
AU - Pasquinelli, A.
AU - Taioli, F.
AU - Cavallaro, T.
AU - Morbin, M.
AU - Marcon, G.
AU - Papini, M.
AU - Rizzuto, N.
PY - 1999/6/1
Y1 - 1999/6/1
N2 - We describe a patient with congenital hypomyelination neuropathy. The pathological and morphometrical findings in the sural nerve biopsy were consistent with a defect of myelin formation and maintenance. Direct sequence analysis of the genomic regions coding the peripheral myelin proteins P0 and PMP22 disclosed a heterozygous missense point mutation that leads to a Ser72Leu substitution in the second transmembrane of PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-Sottas syndrome and including congenital hypomyelination neuropathy. Copyright (C) 1999 Elsevier Science B.V.
AB - We describe a patient with congenital hypomyelination neuropathy. The pathological and morphometrical findings in the sural nerve biopsy were consistent with a defect of myelin formation and maintenance. Direct sequence analysis of the genomic regions coding the peripheral myelin proteins P0 and PMP22 disclosed a heterozygous missense point mutation that leads to a Ser72Leu substitution in the second transmembrane of PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-Sottas syndrome and including congenital hypomyelination neuropathy. Copyright (C) 1999 Elsevier Science B.V.
KW - Congenital hypomyelination neuropathy
KW - Dejerine-Sottas disease
KW - Hypomyelination
KW - PMP22
UR - http://www.scopus.com/inward/record.url?scp=0033039998&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033039998&partnerID=8YFLogxK
U2 - 10.1016/S0960-8966(99)00008-5
DO - 10.1016/S0960-8966(99)00008-5
M3 - Article
C2 - 10399754
AN - SCOPUS:0033039998
VL - 9
SP - 257
EP - 261
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 4
ER -