Recessive loss-of-function mutations in LMOD3 were recently associated with severe congenital nemaline myopathy. LMOD3 encodes leiomodin 3 (LMOD3), a member of the tropomodulin protein family which is likely involved in regulating the formation and structure of actin filaments in muscle. Mutations in KLHL40, a member of the Kelch protein family, also cause nemaline myopathy.… Read More...

Chewing disorders (CD) can be seen due to muscle weakness in children with neuromuscular disorders (NMD). Normal diet consists of all food consistencies including liquid, pudding and solid foods, and CD causes inability to intake solid food. This condition can affect development, nutritional behavior and child-parent interaction in children.… Read More...

Extracellular matrix (ECM) plays essential roles in development, remodeling and mechanical properties of contractile tissues, such as skeletal and cardiac muscles. Deficiency in collagen VI (COLVI), a widely expressed component of ECM, causes skeletal muscle weakness and dysfunction, while cardiac function remains preserved.… Read More...

Patients with inherited neuromuscular disorders have traditionally been the responsibility of children’s palliative care services – or have not been picked up by any service at all. Given that the prognosis of conditions such as Duchenne Muscular Dystrophy have improved such that patients are living into adulthood, and that palliative care services are more proactive at caring patients for those with non-cancer diagnoses – such patients are now falling under the remit of adult services.… Read More...

To identify the causative gene in three patients presenting progressive congenital myopathy and cap structures in skeletal muscle. Cap myopathy is a rare congenital myopathy characterized by the presence of peripherally-placed, well delimited structures resembling a cap in muscle fibres. Caps are mainly composed by thin filaments and segments of Z-disc.… Read More...

Ambulant children attending a neuromuscular outpatient clinic were invited to join a prospective observational gait study. Gait was assessed barefoot at preferred and fast speed using an electronic walkway. Anthropometric and functional mobility data was collected. Speed, step length and support base (heel to heel base of support width) were normalised to height to account for the large age height range.… Read More...

The CtBP1 gene was identified as transcriptional co-repressor that modulates gene expression in multiple cellular pathways. CtBP1 plays a critical role during human embryogenic period. CtBP1 gene presents an active role in myogenesis and post synaptic membrane receptor formation. Its has been associated recently with human disease.… Read More...

Increasing awareness of the advances in the neuromuscular field has led to a broader range of patients being send to neuromuscular clinics. While those with unspecific neuromuscular complaints due to non-neurological somatic and non-somatic disorders as well as the frequently multi-systemic, e.g.… Read More...

Mutations that truncate the reading frame 5′ of exon 5 of the DMD gene result in use of an internal ribosome entry site (IRES). This element allows alternate translational initiation beginning within exon 6 that results in expression of an N-truncated isoform.… Read More...

Autosomal dominant torsin dystonia 1 is a disease with incomplete penetrance most often caused by an in-frame GAG deletion (p.Glu303del) in the endoplasmic reticulum luminal protein torsinA encoded by TOR1A. We report an association of the homozygous dominant disease-causing TOR1A p.Glu303del mutation, and a novel homozygous missense variant (p.Gly318Ser) with a severe arthrogryposis phenotype with developmental delay, strabismus and tremor in three unrelated families.… Read More...