Latest papers

Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.

Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness.

A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.

Proximal myotonic dystrophy associated with parkinsonism.

Female patient with proximal myotonic myopathy and ventricular tachycardia.

New classification and treatment for myotonic disorders.

Human skeletal muscle sodium channelopathies.

Myotonias and army personnel: symptoms and effects on service fitness.

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.

Complications of anaesthesia in neuromuscular disorders.

Neuromuscular rehabilitation and electrodiagnosis. 3. Diseases of muscles and neuromuscular junction

Proximal myopathy as an unusual presenting feature of celiac disease.

Severe proximal myopathy and mononeuritis multiplex in rheumatoid arthritis: manifestations of rheumatoid vasculitis.

Correlating phenotype and genotype in the periodic paralyses.

Patient page. Attacks of immobility caused by diet or exercise? The mystery of periodic paralyses.

Myotonic dystrophy type 2 and related myotonic disorders.

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.

Clinical and genetic analysis of a family with PROMM.