[1] While some patients with centronuclear myopathies remain ambulatory throughout their adult life, others may never crawl or walk and may require wheelchair use for mobility.

Although this condition only affects the voluntary muscles, several children have had cardiac arrest, possibly due to the additional stress placed on the heart.

[4] Recently, researchers discovered mutations at the gene dynamin 2 (DNM2 on chromosome 19, at site 19p13.2), responsible for the autosomal dominant form of centronuclear myopathy.

Research has indicated that patients with DNM2-CNM have a slowly progressive muscular weakness usually beginning in adolescence or early adulthood, with an age range of 12 to 74 years.

[7] MTM1 codes for the myotubularin protein, a highly conserved lipid phosphatase involved in cellular transport, trafficking and signalling.

[9] The possible combinations of inheritance of myotubular myopathy are as follows: Centronuclear myopathy is diagnosed when typical histological findings on muscle biopsy are combined with suggestive clinical symptoms; muscle MR imaging may supplement clinical assessment and inform genetic testing in cases with equivocal signs.

[1] Centronuclear myopathy manifests on muscle biopsy as centrally located nuclei encircled by a perinuclear halo filled with aggregates of glycogen and mitochondria but without myofilaments.

Approximately 80% of males with a diagnosis of myotubular myopathy by muscle biopsy will have a mutation in MTM1 identifiable by genetic sequence analysis.