PMID- 29305133
OWN - NLM
STAT- MEDLINE
DCOM- 20191114
LR  - 20220408
IS  - 1873-2364 (Electronic)
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 28
IP  - 2
DP  - 2018 Feb
TI  - Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, 
      international cohort of GNE myopathy patients: First report from the GNE myopathy 
      Disease Monitoring Program, registry portion.
PG  - 158-168
LID - S0960-8966(17)30570-9 [pii]
LID - 10.1016/j.nmd.2017.11.001 [doi]
AB  - GNE myopathy is a rare distal myopathy, caused by mutations in the GNE gene, 
      affecting sialic acid synthesis. Clinical presentation varies from asymptomatic 
      early stage patients to severely debilitating forms. This first report describes 
      clinical presentations and severity of the disease, using data of 150 patients 
      collected via the on-line, patient-reported registry component of the GNE 
      Myopathy Disease Monitoring Program (GNEM-DMP). Disease progression was 
      prospectively analysed, over a 2-year period, using the GNE myopathy functional 
      activity scale (GNEM-FAS). The average annual rates of decline in function were 
      estimated at -9.6% and -3.2% in ambulant and non-ambulant patients respectively. 
      4.3% of participants became non-ambulant within one year. The mean time from 
      onset to required use of a wheelchair was 11.9 years. Mean delay of genetic 
      diagnosis from symptom onset was 5.2 years. Mutation specific analysis 
      demonstrated genotype-phenotype relationships; i.e. p.Ala662Val may be associated 
      with a more severe phenotype, compared to p.Val727Met. Patients with compound 
      heterozygous mutation in epimerase and kinase domain appeared to have a more 
      severe phenotype compared to patients with both mutations located within one 
      domain. Acknowledging the limitations of the study, these findings suggest that 
      the severity of the GNE mutations affects disease severity. The GNEM-DMP is a 
      useful data collection tool, prospectively measuring the progression of GNE 
      myopathy, which could play an important role in translational and clinical 
      research and further understanding of genotype-phenotype correlations.
CI  - Copyright (c) 2017 The Authors. Published by Elsevier B.V. All rights reserved.
FAU - Pogoryelova, Oksana
AU  - Pogoryelova O
AD  - The John Walton Muscular Dystrophy Research Centre, Newcastle University, UK. 
      Electronic address: Oksana.pogoryelova@ncl.ac.uk.
FAU - Cammish, Phillip
AU  - Cammish P
AD  - The John Walton Muscular Dystrophy Research Centre, Newcastle University, UK.
FAU - Mansbach, Hank
AU  - Mansbach H
AD  - Ultragenyx Pharmaceutical Inc. Novato, CA, USA.
FAU - Argov, Zohar
AU  - Argov Z
AD  - Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, 
      Israel.
FAU - Nishino, Ichizo
AU  - Nishino I
AD  - Department of Neuromuscular Research, National Institute of Neuroscience, 
      National Center of Neurology and Psychiatry, Tokyo, Japan.
FAU - Skrinar, Alison
AU  - Skrinar A
AD  - Ultragenyx Pharmaceutical Inc. Novato, CA, USA.
FAU - Chan, Yiumo
AU  - Chan Y
AD  - Ultragenyx Pharmaceutical Inc. Novato, CA, USA.
FAU - Nafissi, Shahriar
AU  - Nafissi S
AD  - Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
FAU - Shamshiri, Hosein
AU  - Shamshiri H
AD  - Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran.
FAU - Kakkis, Emil
AU  - Kakkis E
AD  - Ultragenyx Pharmaceutical Inc. Novato, CA, USA.
FAU - Lochmuller, Hanns
AU  - Lochmuller H
AD  - The John Walton Muscular Dystrophy Research Centre, Newcastle University, UK.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20171114
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
RN  - 0 (Multienzyme Complexes)
RN  - 0 (UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase)
RN  - Distal myopathy, Nonaka type
SB  - IM
MH  - Adult
MH  - Aged
MH  - Cohort Studies
MH  - Disease Progression
MH  - Distal Myopathies/*epidemiology/*genetics
MH  - Female
MH  - Genetic Association Studies
MH  - Humans
MH  - Internationality
MH  - Male
MH  - Middle Aged
MH  - Multienzyme Complexes/genetics
MH  - Phenotype
MH  - Registries
MH  - Severity of Illness Index
MH  - Young Adult
PMC - PMC5857291
OTO - NOTNLM
OT  - Distal myopathy
OT  - Epidemiology
OT  - GNE myopathy
OT  - Genotype-phenotype correlation
OT  - Hereditary inclusion body myopathy
OT  - Rare neuromuscular disorders
EDAT- 2018/01/07 06:00
MHDA- 2019/11/15 06:00
PMCR- 2018/02/01
CRDT- 2018/01/07 06:00
PHST- 2017/06/20 00:00 [received]
PHST- 2017/10/16 00:00 [revised]
PHST- 2017/11/06 00:00 [accepted]
PHST- 2018/01/07 06:00 [pubmed]
PHST- 2019/11/15 06:00 [medline]
PHST- 2018/01/07 06:00 [entrez]
PHST- 2018/02/01 00:00 [pmc-release]
AID - S0960-8966(17)30570-9 [pii]
AID - 10.1016/j.nmd.2017.11.001 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 
      2017 Nov 14.