Blog Archives
Congenital myasthenic syndrome linked to CHRNE: forms of variable severity
A phenotypic study of a series of 91 Bulgarian Roma patients with congenital myasthenic syndrome linked to the homozygous c.1327delG mutation of the CHRNE gene, aged between one and 64 years, revealed three groups of differing severity: 44 patients, with an average age of 23.7 years, had a mild form; twenty-six others, with an average … [Read more]
15 September: International Myotonic Dystrophy Awareness Day
15 September is International Myotonic Dystrophy Awareness Day. Its aim is to raise awareness on this neuromuscular disease among the medical profession, politicians and the general public, in order to improve diagnosis, care and support for patients, and also to speed up the development of medicines. This 4th edition will place particular emphasis on two … [Read more]
Description of a fifth family of type 4 distal oculopharyngeal myopathy
Distal oculopharyngeal myopathy (DOPM) type 4 is due to a CGG repeat expansion in the RILP1 gene. First described in 2022, it has only been reported in four Chinese families. It manifests as ptosis in the third decade, ophthalmoplegia between the ages of 25 and 35, and dysphagia and dysarthria between the ages of 30 … [Read more]
A comparison focusing on thymic histology between different cohorts of myasthenia gravis
Researchers at the Institute of Myology used a French database to compare early-onset (217) and classic forms of myasthenia (721): the files from this database were analysed clinically, immunologically and histologically (data from examination of the thymus when it had been removed), juvenile forms of myasthenia were subdivided into two groups according to age of … [Read more]
The SH3 domain interactome of amphiphysin 2 in centronuclear myopathies
While amphiphysin 2 uses its BAR domain to anchor to cell membranes and cause them to bend, it also has an SH3 domain at the other end that enables it to interact with other proteins, in particular dynamin 2, cavin 4 or another amphiphysin 2 molecule. Using a new approach to studying the interactome, the … [Read more]
What about the use of statins in hereditary myopathies?
An Israeli expert in neuromuscular diseases has examined the still controversial issue of statins in routine myological practice. Based on the literature, the author draws the following conclusions: this class of cholesterol-lowering drugs is known for its potential direct or indirect muscle toxicity, in the form of autoimmune necrotising myopathy (ANIM) or, less dramatically, simple … [Read more]
The links between muscular dystrophy and TRAPPC11 are becoming clearer
The TRAPPC11 gene encodes a component of a protein complex involved in intracellular trafficking between the Golgi apparatus and the endoplasmic reticulum. Czech researchers have tried to find out more from samples of new patients with a complex genotype: three patients presenting with early-onset muscular dystrophy had a particular genotype combining distinct missense variants of … [Read more]
M&M’s – Muscle Monday Seminar – 19 September – Fabien Le Grand (France) – Postponed
We are sorry to inform you that the seminar has been postponed to a later date. Integrating in silico predictions with an engineered tissue assay identifies re-quiescence cue for muscle stem cells Monday 16 September 2024 – from 12 to 1 pm Fabien Le Grand, PhD (NeuroMyoGène Institute, Lyon, France) Hosted by Capucine … [Read more]
Advances in myotonic dystrophy type 1 – June 2024
This disease, which is also known as Steinert disease, mainly affects the muscles but can also impact other organs to a greater or lesser extent. DM1 is a “multisystem” disorder, meaning it affects several different organs (muscles, the heart, the respiratory system, the digestive system, the endocrine system and the nervous system). Muscles decrease in … [Read more]
Advances in myotonic dystrophy type 2 – June 2024
DM2 mainly affects the muscles but can also impact other organs to a greater or lesser extent. It is very similar to another more common neuromuscular disease called myotonic dystrophy type 1 (DM1). Muscles decrease in volume, become weak (dystrophy) and have difficulty relaxing after they contract (myotonia). DM2 is a “multisystem” disorder, meaning it … [Read more]
