Latest papers

A clinical approach to muscle diseases.

Inherited myopathies and muscular dystrophies.

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

X-linked myotubular myopathy and chylothorax.

[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.

Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy.

Genetic testing for all forms of myotubular/centronuclear myopathy.

Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.

Myotubular/centronuclear myopathy and central core disease.

Congenital myopathies.

[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy].

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

Autosomal dominant centronuclear myopathy with unique clinical presentations.

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

Regional anaesthesia in a patient with centronuclear (myotubular) myopathy.

Opioid-related narcosis in a woman with myopathy receiving magnesium.

[Myotubular myopathy. Case report and review of the literature].

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.