Centronuclear Myopathies (CNM) are a rare group of genetic muscular disorders ranging from mild to severely affected, with symptoms manifesting from birth to late adulthood, and with variable inheritance ranging from X-linked recessive (XLCNM), autosomal dominant (ADCNM), and autosomal recessive (ARCNM). Muscle weakness can affect ambulation to the point of requiring wheelchair use, respiratory muscle weakness often needs ventilatory assistance, and difficulty swallowing may lead to a requirement for a gastrostomy to ensure adequate nutrition.
[for review, see Jungbluth et al. (2008)].
CNMs are genetically widely heterogeneous, and three classical forms of CNM have been characterized:
Mutations in other genes have also been indicated in Centronuclear myopathies, including titin (TTN, Ceyan-Birsoy et al, 2013) and Ryanodine receptor (RYR1, Bevilacqua et al 2001, Wilmshurst et al 2010).
The relationship between the CNM implicated genes in muscle is not well understood yet.
The next step is to develop a translated approach that can be used to regulate dynamin 2 in patients.