Work

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

Year: 2010

Type: article

Study design: Case Report

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2010.04.004

Authors: Hasan O. Akman, Guido Davidzon, Kurenai Tanji, Emma J. MacDermott, Louann Larsen, Mercy M. Davidson, Ronald G. Haller, Lidia S. Szczepaniak, Thomas J.A. Lehman, Michio Hirano, Salvatore DiMauro

Institutions: Columbia University Irving Medical Center, Hospital for Special Surgery, Institute for Exercise and Environmental Medicine, The University of Texas Southwestern Medical Center, Cedars-Sinai Medical Center, Cedars-Sinai Smidt Heart Institute

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Muscular Dystrophy Association, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G497551601, DEVELOPING A NORTH AMERICAN MITOCHONDRIAL DISEASE CONSORTIUM (NAMDC)

OpenAlex ID: W2022216930

FWCI: 5.206

Cites: 28

Cited by: 68

Related to: 10