Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
weakness and structural defects including fiber hypotrophy and organelle mispositioning …

X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by
mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal …

Dynamin 2 mechanoenzyme is a key regulator of membrane remodeling and gain-of-
function mutations in its gene cause centronuclear myopathies. Here, we investigate the …

In this review, we focus on congenital myopathies, which are a genetically heterogeneous
group of hereditary muscle diseases with slow or minimal progression. They are mainly …

The 263rd ENMC International Workshop was convened in Amsterdam 13th-15th May 2022.
This was a hybrid meeting (participants took part either face to face or virtual via an on-line …

X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease,
which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic …

Objective To characterize the spectrum of clinical features in a cohort of X-linked myotubular
myopathy (XL-MTM) carriers, including prevalence, genetic features, clinical symptoms, and …

ABSTRACT X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of
the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin …

Centronuclear myopathy (CNM) is a genetically heterogeneous congenital myopathy
characterized by muscle weakness, atrophy, and variable degrees of cardiorespiratory …

X-Linked myotubular myopathy (XLMTM) is characterized by severe skeletal muscle
weakness and reduced life expectancy. The pathomechanism and the impact of non …