Muscle MRI in neutral lipid storage disease with myopathy carrying mutation c.187+1G>A

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

(2012) Chiara Fiorillo et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Neutral lipid storage disease with myopathy: A whole-body nuclear MRI and metabolic study

(2012) Pascal Laforêt et al.   MOLECULAR GENETICS AND METABOLISM

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles

(2011) J. Chen et al.   CLINICAL NEUROPATHOLOGY

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

(2011) Peter Reilich et al.   JOURNAL OF NEUROLOGY

Lipid Storage Myopathy

(2010) Wen-Chen Liang et al.   Current Neurology and Neuroscience Reports

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

(2010) R. Stramare et al.   Radiologia Medica

The Lack of the C-Terminal Domain of Adipose Triglyceride Lipase Causes Neutral Lipid Storage Disease through Impaired Interactions with Lipid Droplets

(2008) Kunihisa Kobayashi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Distal lipid storage myopathy due to PNPLA2 mutation

(2008) Aya Ohkuma et al.   NEUROMUSCULAR DISORDERS

Triglyceride Deposit Cardiomyovasculopathy

(2008) Ken-ichi Hirano et al.   NEW ENGLAND JOURNAL OF MEDICINE