000 01250 a2200373 4500
005 20250513225138.0
264 0 _c20010208
008 200102s 0 0 eng d
022 _a0022-3050
024 7 _a10.1136/jnnp.70.1.123
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aFabrizi, G M
245 0 0 _aPMP22 related congenital hypomyelination neuropathy.
_h[electronic resource]
260 _bJournal of neurology, neurosurgery, and psychiatry
_cJan 2001
300 _a123-6 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aDemyelinating Diseases
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aMyelin Proteins
_xgenetics
650 0 4 _aPoint Mutation
_xgenetics
650 0 4 _aSural Nerve
_xpathology
700 1 _aSimonati, A
700 1 _aTaioli, F
700 1 _aCavallaro, T
700 1 _aFerrarini, M
700 1 _aRigatelli, F
700 1 _aPini, A
700 1 _aMostacciuolo, M L
700 1 _aRizzuto, N
773 0 _tJournal of neurology, neurosurgery, and psychiatry
_gvol. 70
_gno. 1
_gp. 123-6
856 4 0 _uhttps://doi.org/10.1136/jnnp.70.1.123
_zAvailable from publisher's website
999 _c11058963
_d11058963