Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: Identification of 10 new mutations. Absence of genotype–phenotype correlation
- 31 March 2007
- journal article
- Published by Elsevier BV in Neuromuscular Disorders
- Vol. 17 (3), 235-241
- https://doi.org/10.1016/j.nmd.2006.12.014
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin‐induced adverse effectsArthritis Care & Research, 2006
- McArdle's disease and anaesthesia: Case reports. Review of potential problems and association with malignant hyperthermiaActa Anaesthesiologica Scandinavica, 2005
- Presence of Two Different Genetic Traits in Malignant Hyperthermia FamiliesAnesthesiology, 2002
- Two novel mutations in the myophosphorylase gene in a patient with McArdle diseaseMuscle & Nerve, 2002
- Listening to silence and understanding nonsense: exonic mutations that affect splicingNature Reviews Genetics, 2002
- Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile.Journal of Medical Genetics, 1996
- Evolution of Allosteric Control in Glycogen PhosphorylaseJournal of Molecular Biology, 1993
- McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all casesHuman Molecular Genetics, 1993
- Myophosphorylase B deficiency and malignant hyperthermiaMuscle & Nerve, 1989
- McArdle's disease: Biochemical and molecular genetic studiesAnnals of Neurology, 1988