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

Skeletal muscle is an important motor organ with multinucleated myofibers as its smallest
cellular units. Myofibers are formed after undergoing cell differentiation, cell–cell fusion …

Background X-linked myotubular myopathy is a rare, life-threatening, congenital muscle
disease observed mostly in males, which is caused by mutations in MTM1. No therapies are …

Objectives Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular
disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to …

The mechanoenzyme dynamin 2 (DNM2) is crucial for intracellular organization and
trafficking. DNM2 is mutated in dominant centronuclear myopathy (DNM2-CNM), a muscle …

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 …

Purpose Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy
require extensive supportive care, including ventilator assistance, wheelchairs and feeding …

Abstract Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for
mediating membrane fission by oligomerizing at the neck of membrane invaginations …

Background New gene therapy approaches have emerged as promising treatment options
for rare congenital disorders and certain tumor entities for which previously only procedures …

Background Centronuclear myopathies are severe rare congenital diseases. The clinical
variability and genetic heterogeneity of these myopathies result in major challenges in …