PMID- 1506851
OWN - NLM
STAT- MEDLINE
DCOM- 19920923
LR  - 20190724
IS  - 0022-510X (Print)
IS  - 0022-510X (Linking)
VI  - 110
IP  - 1-2
DP  - 1992 Jul
TI  - Hereditary motor and sensory neuropathy with deafness, mental retardation and 
      absence of large myelinated fibers.
PG  - 121-30
AB  - Two brothers with a presumably hereditary motor and sensory polyneuropathy 
      (HMSN), sensory-neural hearing loss and mental retardation had clinical features 
      and neuropathological changes in the sural nerve which may set the disorder apart 
      from previously described types of HMSN. Consecutive sural nerve biopsies from 
      one case showed absence of large myelinated fibers and a normal complement of 
      small fibers. We infer from our findings that a developmental abnormality with 
      faulty growth and subsequent axonal atrophy may be responsible.
FAU - Mancardi, G L
AU  - Mancardi GL
AD  - Institute of Neurology, University of Genova, Italy.
FAU - Di Rocco, M
AU  - Di Rocco M
FAU - Schenone, A
AU  - Schenone A
FAU - Veneselli, E
AU  - Veneselli E
FAU - Doria, M
AU  - Doria M
FAU - Abbruzzese, M
AU  - Abbruzzese M
FAU - Tabaton, M
AU  - Tabaton M
FAU - Borrone, C
AU  - Borrone C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - Netherlands
TA  - J Neurol Sci
JT  - Journal of the neurological sciences
JID - 0375403
SB  - IM
MH  - Adolescent
MH  - Child, Preschool
MH  - Deafness/*pathology/physiopathology
MH  - Female
MH  - Hereditary Sensory and Motor Neuropathy/*pathology/physiopathology
MH  - Humans
MH  - Intellectual Disability/*pathology/physiopathology
MH  - Male
MH  - Microscopy, Electron
MH  - Nerve Fibers/*ultrastructure
MH  - Nerve Fibers, Myelinated/*ultrastructure
MH  - Neural Conduction
MH  - Pedigree
MH  - Peripheral Nerves/pathology/physiopathology/ultrastructure
MH  - Syndrome
RF  - 47
EDAT- 1992/07/01 00:00
MHDA- 1992/07/01 00:01
CRDT- 1992/07/01 00:00
PHST- 1992/07/01 00:00 [pubmed]
PHST- 1992/07/01 00:01 [medline]
PHST- 1992/07/01 00:00 [entrez]
AID - 0022-510X(92)90018-G [pii]
AID - 10.1016/0022-510x(92)90018-g [doi]
PST - ppublish
SO  - J Neurol Sci. 1992 Jul;110(1-2):121-30. doi: 10.1016/0022-510x(92)90018-g.