… More recently, Meola and collaborators (manuscript in preparation) have identified the first
case of a DM2 patient with a concomitant mutation on SCN4A gene. SCN4A codes for Nav1.4 …

… In a minority of patients tested by Delaporte26 but in none of those tested by Meola et al.,71
the scores reached a pathological level for personality disorder. Winblad et al.133 applied …

Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic
disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based …

Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis,
long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We …

Background Among asymptomatic patients with severe carotid artery stenosis but no recent
stroke or transient cerebral ischaemia, either carotid artery stenting (CAS) or carotid …

The aim of this work was to identify micro‐RNAs (miRNAs) involved in the pathological pathways
activated in skeletal muscle damage and regeneration by both dystrophin absence and …

A previous study in proximal myotonic myopathy (PROMM/DM-2) and myotonic dystrophy
type 1 (DM-1) using brain positron emission tomography demonstrated a reduced cerebral …

Background: Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic
periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors …

Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors
used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type …

… (c) pTl mtDNA exhibits an A-to-G transition at position 8344 … 143B cells revealed the A-to-G
transition in pTl and its absence in … exclusively or in great predominance G at position 8344, …