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A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.

scientific article

Association of SLCO1B1 c.521T>C (rs4149056) with discontinuation of atorvastatin due to statin-associated muscle symptoms

scientific article published on 22 May 2020

Association of common variants in the human eyes shut ortholog (EYS) with statin‐induced myopathy: Evidence for additional functions of EYS ⬇️

scientific article published on August 8, 2011

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

scientific article published on 11 June 2008

Clinical features related to statin-associated muscle symptoms

scientific article published on 11 January 2019

GATM polymorphism associated with the risk for statin-induced myopathy does not replicate in case-control analysis of 715 dyslipidemic individuals

scientific article published on April 2015

Genetic risk factors associated with lipid-lowering drug-induced myopathies

scientific article

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies ⬇️

scientific article published on July 12, 2011

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

scientific article

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

scientific article published on 01 November 2002

Metabolic myopathies discovered during investigations of statin myopathy.

scientific article published in March 2008

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

scientific article published on 02 March 2020

Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.

scientific article

Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency

scientific article published on 21 November 2012

Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency

scientific article published in October 2002

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