Myotubular myopathy and excitation contraction coupling: From pathomechanism(s) to therapy

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Myotubular myopathy (MTM) is an X-linked neuromuscular disorder caused by loss of function mutations in the phosphoinositide 3-phosphatase myotubularin (or MTM1). MTM is a devastating disease associated with severe muscle weakness, significant morbidities (including wheelchair and ventilator dependence), and early death. The primary pathologic abnormality underlying MTM is defective triad structure, which results in impaired EC coupling and is the cause of muscle weakness in patients. The mechanistic links, however, between MTM1’s cell functions (metabolism of the phosphoinositides PI3P and PI3,5P2 and regulation of endosomal sorting) and the alterations in triads found in the disease are not clear.

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