A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review

Kimihiko Kaneko, Hiroshi Kuroda, Rumiko Izumi, Maki Tateyama, Masaaki Kato, Koichiro Sugimura, Yasuhiko Sakata, Yoshihiko Ikeda, Ken ichi Hirano, Masashi Aoki

研究成果: Article査読

38 被引用数 (Scopus)

抄録

Mutations in PNPLA2 cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy (TGCV). We report a 59-year-old patient with NLSDM/TGCV presenting marked asymmetric skeletal myopathy and cardiomyovasculopathy. Skeletal muscle and endomyocardial biopsies showed cytoplasmic vacuoles containing neutral lipid. Gene analysis revealed a novel homozygous mutation (c.576delC) in PNPLA2. We reviewed 37 genetically-proven NLSDM/TGCV cases; median age was 30. years; distribution of myopathy was proximal (69%) and distal predominant (16%); asymmetric myopathy (right > left) was reported in 41% of the patients. Frequently-affected muscles were posterior compartment of leg (75%), shoulder girdle to upper arm (50%), and paraspinal (33%). Skeletal muscle biopsies showed lipid accumulation in 100% and rimmed vacuoles in 22%. Frequent comorbidities were cardiomyopathy (44%), hyperlipidemia (23%), diabetes mellitus (24%), and pancreatitis (14%). PNPLA2 mutations concentrated in Exon 4-7 without apparent genotype-phenotype correlations. To know the characteristic features is essential for the early diagnosis of NLSDM/TGCV.

本文言語English
ページ(範囲)634-641
ページ数8
ジャーナルNeuromuscular Disorders
24
7
DOI
出版ステータスPublished - 2014 7

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 神経学
  • 臨床神経学
  • 遺伝学(臨床)

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