PMID- 33569515
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240330
IS  - 2352-3042 (Electronic)
IS  - 2352-4820 (Print)
IS  - 2352-3042 (Linking)
VI  - 8
IP  - 1
DP  - 2021 Jan
TI  - A novel PNPLA2 mutation causing total loss of RNA and protein expression in two 
      NLSDM siblings with early onset but slowly progressive severe myopathy.
PG  - 73-78
LID - 10.1016/j.gendis.2019.07.006 [doi]
AB  - Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive 
      disorder, due to an enzymatic error of lipid metabolism. Patients present always 
      with skeletal muscle myopathy and variable cardiac and hepatic involvement. NLSDM 
      is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride 
      lipase (ATGL). Here we report the molecular characterization and clinical 
      findings of two NLSDM siblings carrying the novel c.187+1G > C homozygous PNPLA2 
      mutation, localized in the splice site of intron 2. Molecular analyses revealed 
      that neither aberrant PNPLA2 mRNA isoforms, nor ATGL mutated protein were 
      detectable in patient's cells. Clinically, both patients presented early onset 
      muscle weakness, in particular of proximal upper limb muscles. In almost 15 
      years, muscle damage affected also distal upper limbs. This is a NLSDM family, 
      displaying a severe PNPLA2 mutation in two siblings with clinical presentation 
      characterized by an early onset, but a slowly evolution of severe myopathy.
CI  - (c) 2019 Chongqing Medical University. Production and hosting by Elsevier B.V.
FAU - Tavian, Daniela
AU  - Tavian D
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universita 
      Cattolica del Sacro Cuore, pz Buonarroti 30, Milan, 20145, Italy.
AD  - Department of Psychology, Universita Cattolica del Sacro Cuore, 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 - Morandi, Lucia
AU  - Morandi L
AD  - Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto 
      Neurologico "Carlo Besta", Milan, Italy.
FAU - Bragato, Cinzia
AU  - Bragato C
AD  - Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto 
      Neurologico "Carlo Besta", Milan, Italy.
AD  - PhD program in Neuroscience, University of Milano-Bicocca, Via Cadore 48, Monza, 
      20900, Italy.
FAU - Missaglia, Sara
AU  - Missaglia S
AD  - Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Universita 
      Cattolica del Sacro Cuore, pz Buonarroti 30, Milan, 20145, Italy.
AD  - Department of Psychology, Universita Cattolica del Sacro Cuore, Largo Gemelli 1, 
      Milan, 20123, Italy.
LA  - eng
PT  - Journal Article
DEP - 20190729
PL  - Netherlands
TA  - Genes Dis
JT  - Genes & diseases
JID - 101635967
PMC - PMC7859421
OTO - NOTNLM
OT  - Cardiomyopathy
OT  - Lipid metabolism
OT  - Neutral lipid storage disease with myopathy
OT  - PNPLA2
OT  - Splicing mutation
OT  - Triglyceride lipase
EDAT- 2019/07/29 00:00
MHDA- 2019/07/29 00:01
PMCR- 2019/07/29
CRDT- 2021/02/11 05:55
PHST- 2019/06/20 00:00 [received]
PHST- 2019/07/12 00:00 [revised]
PHST- 2019/07/22 00:00 [accepted]
PHST- 2021/02/11 05:55 [entrez]
PHST- 2019/07/29 00:00 [pubmed]
PHST- 2019/07/29 00:01 [medline]
PHST- 2019/07/29 00:00 [pmc-release]
AID - S2352-3042(19)30050-9 [pii]
AID - 10.1016/j.gendis.2019.07.006 [doi]
PST - epublish
SO  - Genes Dis. 2019 Jul 29;8(1):73-78. doi: 10.1016/j.gendis.2019.07.006. eCollection 
      2021 Jan.