Congenital muscular dystrophies (CMDs) are a group of inherited conditions defined by
muscle weakness occurring before the acquisition of ambulation, delayed motor milestones …

Geranylgeranyl diphosphate synthase (GGDPS), an enzyme in the isoprenoid biosynthesis
pathway, is responsible for the production of geranylgeranyl pyrophosphate (GGPP). GGPP …

Statins are a mainstay intervention for cardiovascular disease prevention, yet their use can
cause rare severe myopathy. HMG-CoA reductase, an essential enzyme in the mevalonate …

Hearing loss and impaired fertility are common human disorders each with multiple genetic
causes. Sometimes deafness and impaired fertility, which are the hallmarks of Perrault …

The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the
large and small subunits of the mitochondrial ribosome can cause human disease …

Background Congenital myopathies are severe genetic diseases with a strong impact on
patient autonomy and often on survival. A large number of patients do not have a genetic …

RMND1 (required for meiotic nuclear division 1 homolog) pathogenic variants are known to
cause combined oxidative phosphorylation deficiency (COXPD11), a severe multisystem …

Purpose We sought to delineate a multisystem disorder caused by recessive cysteine-rich
with epidermal growth factor–like domains 1 (CRELD1) gene variants. Methods The impact …

Background: GGPS1 (geranylgeranyl diphosphate synthase 1) is a member of the
prenyltransferase family. Abnormal expression of GGPS1 can disrupt the balance between …

Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly
progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and …