PMID- 30352762
OWN - NLM
STAT- MEDLINE
DCOM- 20181221
LR  - 20181221
IS  - 1532-2653 (Electronic)
IS  - 0967-5868 (Linking)
VI  - 58
DP  - 2018 Dec
TI  - Neutral lipid storage disease with myopathy and dropped head syndrome. Report of 
      a new variant susceptible of treatment with late diagnosis.
PG  - 207-209
LID - S0967-5868(18)30896-8 [pii]
LID - 10.1016/j.jocn.2018.10.046 [doi]
AB  - Neutral lipid storage disease with myopathy (NLSDM) is characterized by the 
      accumulation of cytoplasmic triglyceride droplets in various tissues; this very 
      rare condition is caused by mutations in the PNPLA2 gene, susceptible to specific 
      pharmacological management that decreases clinical progression. We describe the 
      clinical and biochemical characteristics of a Colombian patient with a previously 
      unreported homozygous mutation in the PNPLA2 gene with a difficult to manage 
      disease, who was diagnosed late by advances in molecular techniques.
CI  - Copyright (c) 2018 Elsevier Ltd. All rights reserved.
FAU - Garcia, Mary A
AU  - Garcia MA
AD  - Resident of Medical Genetics in Human Genetic Institute, Pontificia Universidad 
      Javeriana, 11001000, Bogota, Colombia. Electronic address: 
      garcia.mary@javeriana.edu.co.
FAU - Rojas, Jorge A
AU  - Rojas JA
AD  - Geneticist of Hospital Universitario San Ignacio, 110141 Bogota, Colombia.
FAU - Millan, Sonia P
AU  - Millan SP
AD  - Hospital Universitario San Ignacio, 110141 Bogota, Colombia.
FAU - Florez, Adriana A
AU  - Florez AA
AD  - Fundacion Santa Fe de Bogota, 110111 Bogota, Colombia.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20181022
PL  - Scotland
TA  - J Clin Neurosci
JT  - Journal of clinical neuroscience : official journal of the Neurosurgical Society 
      of Australasia
JID - 9433352
RN  - EC 3.1.1.3 (Lipase)
RN  - EC 3.1.1.3 (PNPLA2 protein, human)
RN  - Neutral Lipid Storage Disease with Myopathy
SB  - IM
MH  - Delayed Diagnosis
MH  - Disease Progression
MH  - Female
MH  - Humans
MH  - Lipase/*genetics
MH  - Lipid Metabolism, Inborn Errors/*genetics/physiopathology
MH  - Middle Aged
MH  - Muscular Diseases/*genetics/physiopathology
MH  - Mutation, Missense
OTO - NOTNLM
OT  - Adipose triglyceride lipase
OT  - Bezafibrate
OT  - Dropped hair
OT  - Muscular dystrophy
OT  - Myopathy
OT  - Neutral lipid storage
EDAT- 2018/10/26 06:00
MHDA- 2018/12/24 06:00
CRDT- 2018/10/25 06:00
PHST- 2018/05/20 00:00 [received]
PHST- 2018/10/07 00:00 [accepted]
PHST- 2018/10/26 06:00 [pubmed]
PHST- 2018/12/24 06:00 [medline]
PHST- 2018/10/25 06:00 [entrez]
AID - S0967-5868(18)30896-8 [pii]
AID - 10.1016/j.jocn.2018.10.046 [doi]
PST - ppublish
SO  - J Clin Neurosci. 2018 Dec;58:207-209. doi: 10.1016/j.jocn.2018.10.046. Epub 2018 
      Oct 22.