Ontology highlight
ABSTRACT:
SUBMITTER: Garibaldi M
PROVIDER: S-EPMC5502068 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Garibaldi Matteo M Tasca Giorgio G Diaz-Manera Jordi J Ottaviani Pierfancesco P Laschena Francesco F Pantoli Donatella D Gerevini Simonetta S Fiorillo Chiara C Maggi Lorenzo L Tasca Elisabetta E D'Amico Adele A Musumeci Olimpia O Toscano Antonio A Bruno Claudio C Massa Roberto R Angelini Corrado C Bertini Enrico E Antonini Giovanni G Pennisi Elena Maria EM
Journal of neurology 20170513 7
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius ...[more]