Other inherited neuromuscular conditions

Our research interests often span diseases and encompass a wide range of inherited neuromuscular conditions. Conditions such as DMD and myotonic dystrophy affect hundreds of individuals in Canada, but there are at least another 400 genetically distinct neuromuscular diseases that affect smaller numbers of people. These include mitochondrial myopathies, myofibrillar neuropathies, congenital muscular dystrophies, limb-girdle muscular dystrophies, inherited neuropathies, metabolic myopathies and other complex neurological conditions. Most of these conditions do not have effective therapies, and many families lack a definite molecular diagnosis.

Hanns sees patients with all forms of neuromuscular disease in clinic. Our team’s research into those other less frequent neuromuscular diseases ranges from gene discovery and the elucidation of the underlying pathogenesis to the development of new therapeutic approaches.

Image of stained muscle sections using different staining techniques

Relevant publications

Cipriani, S, Phan, V, Médard, JJ, Horvath, R, Lochmüller, H, Chrast, R et al.. Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. Int J Mol Sci. 2018.19 (12) PMID:30562927

Phan, V, Cox, D, Cipriani, S, Spendiff, S, Buchkremer, S, O'Connor, E et al.. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. Neurobiol. Dis. 2018.124 218-229 PMID:30468864

Boczonadi, V, King, MS, Smith, AC, Olahova, M, Bansagi, B, Roos, A et al.. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet. Med. 2018.20 (10)1224-1235 PMID:29517768

Bartsakoulia, M, Pyle, A, Troncoso-Chandía, D, Vial-Brizzi, J, Paz-Fiblas, MV, Duff, J et al.. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Hum. Mol. Genet. 2018.27 (7)1186-1195 PMID:29361167

Harris, E, Marini-Bettolo, C, Töpf, A, Barresi, R, Polvikoski, T, Bailey, G et al.. MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. Neuromuscul. Disord. 2018.28 (1)48-53 PMID:29128256

Unger, A, Beckendorf, L, Böhme, P, Kley, R, von Frieling-Salewsky, M, Lochmüller, H et al.. Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. Acta Neuropathol Commun. 2017.5 (1)72 PMID:28915917

Scotton, C, Bovolenta, M, Schwartz, E, Falzarano, MS, Martoni, E, Passarelli, C et al.. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J. Cell. Sci. 2016.129 (8)1671-84 PMID:26945058

Wiessner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D et al.. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. Am. J. Hum. Genet. 2017.100 (3)523-536 PMID:28190456

Herrmann, DN, Horvath, R, Sowden, JE, Gonzalez, M, Gonzales, M, Sanchez-Mejias, A et al.. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am. J. Hum. Genet. 2014.95 (3)332-9 PMID:25192047

Gempel, K, Topaloglu, H, Talim, B, Schneiderat, P, Schoser, BG, Hans, VH et al.. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007.130 (Pt 8)2037-44 PMID:17412732