PMID- 27067623
OWN - NLM
STAT- MEDLINE
DCOM- 20170103
LR  - 20170104
IS  - 1873-2364 (Electronic)
IS  - 0960-8966 (Linking)
VI  - 26
IP  - 4-5
DP  - 2016 Apr-May
TI  - Congenital hypomyelinating neuropathy due to the association of a truncating 
      mutation in PMP22 with the classical HNPP deletion.
PG  - 316-21
LID - S0960-8966(15)30052-3 [pii]
LID - 10.1016/j.nmd.2016.01.004 [doi]
AB  - Congenital hypomyelinating neuropathy appears early in life, resulting in a delay 
      of motor and sensory development. Mutations involve genes such as myelin protein 
      zero (MPZ), peripheral myelin protein 22 (PMP22), and early growth response 2 
      (EGR2). We present a patient with two compound mutations in PMP22: a point 
      mutation causing a premature STOP codon in exon 3 was inherited from the mother 
      on the first allele, and the "typical" PMP22 deletion in the 17p11.2-p12 region 
      was inherited from the father on the other allele. A sural biopsy was performed 
      at age four. The patient has been followed from 28 months to 21 years of age; he 
      presented significant sensory disturbances, with a slight motor deficit. PMP22 
      mRNA quantitation showed a severe decrease of PMP22 protein. No myelin sheaths 
      were observed in the biopsy; mesaxons failed to form. The absence of PMP22 
      provides new insights into the role of this protein.
CI  - Copyright (c) 2016 Elsevier B.V. All rights reserved.
FAU - Jouaud, Maxime
AU  - Jouaud M
AD  - Department 6309, Maintenance Myelinique et Neuropathies Peripheriques, Faculte de 
      Medecine de Limoges, Universite de Limoges, Limoges, France.
FAU - Gonnaud, Pierre-Marie
AU  - Gonnaud PM
AD  - Department of Neurology and Sleep Disorders, Centre Hospitalier Lyon Sud, 
      Hospices Civils de Lyon, Lyon, France.
FAU - Richard, Laurence
AU  - Richard L
AD  - Department of Neurology, National Reference Center for Rare Peripheral 
      Neuropathies, University Hospital, Limoges, France.
FAU - Latour, Philippe
AU  - Latour P
AD  - Department of Biochemistry, Centre de Biologie Est, Hospices Civils de Lyon, 
      Lyon, France.
FAU - Ollagnon-Roman, Elisabeth
AU  - Ollagnon-Roman E
AD  - Department of Genetics, Hospices Civils de Lyon, Lyon, France.
FAU - Sturtz, Franck
AU  - Sturtz F
AD  - Department 6309, Maintenance Myelinique et Neuropathies Peripheriques, Faculte de 
      Medecine de Limoges, Universite de Limoges, Limoges, France; Department of 
      Biochemistry and Genetics, CHU de Limoges, Equipe d'accueil 6309, Maintenance 
      Myelinique et Neuropathies Peripheriques, Universite de Limoges, Limoges, France.
FAU - Mathis, Stephane
AU  - Mathis S
AD  - Department of Neurology, CHU Poitiers, University of Poitiers, 2 Rue de la 
      Miletrie, 86021 Poitiers, France.
FAU - Magy, Laurent
AU  - Magy L
AD  - Department of Neurology, National Reference Center for Rare Peripheral 
      Neuropathies, University Hospital, Limoges, France.
FAU - Vallat, Jean-Michel
AU  - Vallat JM
AD  - Department of Neurology, National Reference Center for Rare Peripheral 
      Neuropathies, University Hospital, Limoges, France. Electronic address: 
      jean-michel.vallat@unilim.fr.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160405
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 0 (RNA, Messenger)
RN  - Charcot-Marie-Tooth disease, Type 4E
SB  - IM
MH  - Biopsy
MH  - Charcot-Marie-Tooth Disease/*genetics/pathology/physiopathology
MH  - Child, Preschool
MH  - Humans
MH  - Male
MH  - Myelin Proteins/*genetics/metabolism
MH  - Neural Conduction/genetics
MH  - *Point Mutation
MH  - RNA, Messenger/metabolism
MH  - *Sequence Deletion
MH  - Sural Nerve/pathology/physiopathology
MH  - Young Adult
OTO - NOTNLM
OT  - CMT
OT  - Congenital hypomyelinating neuropathy
OT  - Nerve biopsy
OT  - PMP22
EDAT- 2016/04/14 06:00
MHDA- 2017/01/04 06:00
CRDT- 2016/04/13 06:00
PHST- 2015/09/28 00:00 [received]
PHST- 2016/01/20 00:00 [revised]
PHST- 2016/01/27 00:00 [accepted]
PHST- 2016/04/13 06:00 [entrez]
PHST- 2016/04/14 06:00 [pubmed]
PHST- 2017/01/04 06:00 [medline]
AID - S0960-8966(15)30052-3 [pii]
AID - 10.1016/j.nmd.2016.01.004 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2016 Apr-May;26(4-5):316-21. doi: 10.1016/j.nmd.2016.01.004. 
      Epub 2016 Apr 5.