PMID- 28258942
OWN - NLM
STAT- MEDLINE
DCOM- 20180221
LR  - 20181113
IS  - 1873-2364 (Electronic)
IS  - 0960-8966 (Print)
IS  - 0960-8966 (Linking)
VI  - 27
IP  - 5
DP  - 2017 May
TI  - Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing 
      total loss of lipase activity in a patient with myopathy and slight cardiac 
      involvement.
PG  - 481-486
LID - S0960-8966(16)30812-4 [pii]
LID - 10.1016/j.nmd.2017.01.011 [doi]
AB  - Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle 
      myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is 
      caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride 
      lipase (ATGL). Here we report clinical and genetic findings of a patient carrying 
      two novel PNPLA2 mutations (c.696+4A>G and c.553_565delGTCCCCCTTCTCG). She 
      presented at age 39 with right upper limb abduction weakness slowly progressing 
      over the years with asymmetric involvement of proximal upper and lower limb 
      muscles. Cardiological evaluation through ECG and heart echo scan was normal 
      until the age 53, when mild left ventricular diastolic dysfunction was detected. 
      Molecular analysis revealed that only one type of PNPLA2 transcript, with exon 5 
      skipping, was expressed in patient cells. Such aberrant mRNA causes the 
      production of a shorter ATGL protein, lacking part of the catalytic domain. This 
      is an intriguing case, displaying severe PNPLA2 mutations with clinical 
      presentation characterized by slight cardiac impairment and full expression of 
      severe asymmetric myopathy.
CI  - Copyright (c) 2017 The Authors. Published by Elsevier B.V. All rights reserved.
FAU - Missaglia, Sara
AU  - Missaglia S
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic 
      University of the Sacred Heart, pz Buonarroti 30, Milan 20145, Italy; Department 
      of Psychology, Catholic University of the Sacred Heart, Largo Gemelli, 1, Milan 
      20123, Italy.
FAU - Maggi, Lorenzo
AU  - Maggi L
AD  - Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto 
      Neurologico "Carlo Besta", Milan, Italy.
FAU - Mora, Marina
AU  - Mora M
AD  - Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto 
      Neurologico "Carlo Besta", Milan, Italy.
FAU - Gibertini, Sara
AU  - Gibertini S
AD  - Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto 
      Neurologico "Carlo Besta", Milan, Italy.
FAU - Blasevich, Flavia
AU  - Blasevich F
AD  - Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto 
      Neurologico "Carlo Besta", Milan, Italy.
FAU - Agostoni, Piergiuseppe
AU  - Agostoni P
AD  - Centro Cardiologico Monzino, IRCCS, Milan, Italy; Department of Clinical and 
      Community Sciences, University of Milan, Milan, Italy.
FAU - Moro, Laura
AU  - Moro L
AD  - Department of Pharmaceutical Sciences, University of Piemonte Orientale 
      "Amedeo-Avogadro", Novara, Italy.
FAU - Cassandrini, Denise
AU  - Cassandrini D
AD  - Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
FAU - Santorelli, Filippo Maria
AU  - Santorelli FM
AD  - Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
FAU - Gerevini, Simonetta
AU  - Gerevini S
AD  - Servizio di Neuroradiologia, Ospedale San Raffaele, Milan, Italy.
FAU - Tavian, Daniela
AU  - Tavian D
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic 
      University of the Sacred Heart, pz Buonarroti 30, Milan 20145, Italy; Department 
      of Psychology, Catholic University of the Sacred Heart, Largo Gemelli, 1, Milan 
      20123, Italy. Electronic address: daniela.tavian@unicatt.it.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170117
PL  - England
TA  - Neuromuscul Disord
JT  - Neuromuscular disorders : NMD
JID - 9111470
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  - Cardiomyopathies/diagnostic imaging/*genetics/pathology/physiopathology
MH  - Female
MH  - Humans
MH  - Lipase/*deficiency/genetics
MH  - Lipid Metabolism, Inborn Errors/diagnostic 
      imaging/*genetics/pathology/physiopathology
MH  - Middle Aged
MH  - Muscles/diagnostic imaging/pathology
MH  - Muscular Diseases/diagnostic imaging/*genetics/pathology/physiopathology
MH  - *Mutation
PMC - PMC5424884
OTO - NOTNLM
OT  - Cardiomyopathy
OT  - Lipid droplets
OT  - Lipid metabolism
OT  - Neutral lipid storage disease with myopathy
OT  - PNPLA2
OT  - Triglyceride lipase
EDAT- 2017/03/05 06:00
MHDA- 2018/02/22 06:00
PMCR- 2017/05/01
CRDT- 2017/03/05 06:00
PHST- 2016/07/12 00:00 [received]
PHST- 2016/11/19 00:00 [revised]
PHST- 2017/01/15 00:00 [accepted]
PHST- 2017/03/05 06:00 [pubmed]
PHST- 2018/02/22 06:00 [medline]
PHST- 2017/03/05 06:00 [entrez]
PHST- 2017/05/01 00:00 [pmc-release]
AID - S0960-8966(16)30812-4 [pii]
AID - 10.1016/j.nmd.2017.01.011 [doi]
PST - ppublish
SO  - Neuromuscul Disord. 2017 May;27(5):481-486. doi: 10.1016/j.nmd.2017.01.011. Epub 
      2017 Jan 17.