Abstract Treatment effectiveness and biosafety are critical for disease therapy. Bio-
membrane modification facilitates the homologous targeting of drugs in vivo by exploiting …

Phospholipids (PLs) are amphiphilic molecules that were essential for life to become
cellular. PLs have not only a key role in compartmentation as they are the main components …

Abstract Megaconial Congenital Muscular Dystrophy (CMD) is a rare autosomal recessive
disorder characterized by enlarged mitochondria located mainly at the periphery of muscle …

Mitochondrial diseases are clinically and genetically heterogeneous. These diseases were
initially described a little over three decades ago. Limited diagnostic tools created disease …

Megaconial congenital muscular dystrophy (CMD)(OMIM# 602541), related to CHKB
mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed patients are …

Background Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis
of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway …

Megaconial congenital muscular dystrophy (OMIM: 602,541) related to CHKB gene mutation
is a newly defined rare autosomal recessive disorder, with multisystem involvement …

Background CHKB mutations have been described in 49 patients with megaconial
congenital muscular dystrophy, which is a rare autosomal recessive disorder, of which 40 …

CHKB-related muscular dystrophy (CHKB-MD), reported in 47 individuals to date, comprises
congenital muscular dystrophy (CMD)(44 individuals) and adolescent-onset limb-girdle …

Megaconial congenital muscular dystrophy (MDCMC, MIM# 602541) is an autosomal-
recessive disorder characterized by global developmental delay, intellectual disability …