Metabolic myopathies in the era of next-generation sequencing

JA Urtizberea, G Severa, E Malfatti - Genes, 2023 - mdpi.com
Metabolic myopathies are rare inherited disorders that deserve more attention from
neurologists and pediatricians. Pompe disease and McArdle disease represent some of the …

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

H de Calbiac, A Imbard… - Journal of Inherited …, 2025 - Wiley Online Library
Acute rhabdomyolysis (RM) constitutes a life‐threatening emergency resulting from the
(acute) breakdown of skeletal myofibers, characterized by a plasma creatine kinase (CK) …

Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

P Renard, L Caccavelli, A Legendre… - Biomedicine & …, 2023 - Elsevier
Background Lipin-1 deficiency is a life-threatening disease that causes severe
rhabdomyolysis (RM) and chronic symptoms associated with oxidative stress. In the …

Telbivudine-induced rhabdomyolysis in a patient undergoing haemodialysis: A case report and review of literature

K Wu, X Xu, L Huang, E Zhu, Y Dong… - Journal of …, 2023 - journals.sagepub.com
Herein, we describe a case of acute rhabdomyolysis in a man in his early 50s undergoing
haemodialysis and receiving the antiviral drug, telbivudine, for chronic hepatitis B virus …

[HTML][HTML] Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency

M Yeganeh, K March, C Jones, G Ho, KA Selby… - Molecular Genetics and …, 2023 - Elsevier
Introduction LPIN1 deficiency is an autosomal recessive form of early childhood recurrent
severe rhabdomyolysis. Although not completely lucid yet, LPIN1 has been shown to …

[HTML][HTML] Disorders of lipid metabolism

EA Piccione - medlink.com
Disorders of lipid metabolism are a heterogeneous group of diseases that cause excessive
lipid storage in multiple organs, with skeletal and cardiac muscle most commonly affected …