Ontology highlight
ABSTRACT:
SUBMITTER: Angelini C
PROVIDER: S-EPMC6477769 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Angelini Corrado C Pennisi Elena E Missaglia Sara S Tavian Daniela D
Therapeutic advances in neurological disorders 20190422
Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment options are discussed. The main topics discussed are: primary carnitine deficiency, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, neutral lipid storage disorders and carnitine palmitoyl transferase deficiency. The most frequent presentations and genetic ab ...[more]