Abstract
Udd et al. [1, 2] reported a large consanguineous Finnish family in which some patients had a severe form of LGMD transmitted in an autosomal recessive pattern and other members with mild late-onset tibial distal myopathy (TMD) inherited as an autosomal dominant trait. The rare cases of homozygosity showing a severe LGMD phenotype represent a unique phenomenon, since the LGMD phenotype does not manifest in the parents; thus, the LGMD2J phenotype occurs as a recessive trait [3]. Later, both LGMD2J and TMD have been demonstrated to be due to mutations in the TTN gene [3, 4], encoding the biggest protein in humans (363 exons) called “titin” or “connectin,” which is a major component of muscle sarcomere.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Udd B, Kaarianen H, Somer H. Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve. 1991;14:1050–8.
Udd B, Rapola J, Nokelainen P, Arikawa E, Somer H. Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy. J Neurol Sci. 1992;113:214–21.
Udd B, Vihola A, Sarparanta J, et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology. 2005;64:636–42.
Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal muscle protein titin. Am J Hum Genet. 2002;71:492–500.
Penisson-Besnier I, Hackman P, Suominen T, et al. Myopathies caused by homozygous mutations: limb girdle muscular dystrophy 2J and variations of phenotypes. J Neurol Neurosurg Psychiatry. 2010;81:1200–2.
Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002;30:201–4.
Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366:619–28.
Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy and early respiratory failure. Brain. 2012;135:1695–713.
Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. 2014;85:331–8.
Palmio J, Evila A, Chapon F, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry. 2014;85:345–53.
De Cid R, Ben Yaou R, Roudaut C, et al. A new titinopathy. Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy. Neurology. 2015;85:2126–35.
Carmignac V, Salih MAM, Quijano-Roy S, et al. C-Terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007;61:340–51.
Haravuori H, Vihola A, Straub V, et al. Secondary calpain-3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology. 2001;56:869–77.
Evila A, Vihola A, Sarparanta J, et al. Atypical phenotypes in titinopathies explained by second titin mutations. Ann Neurol. 2014;75:230–40.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Angelini, C. (2018). Limb-Girdle Muscular Dystrophy Type 2J. In: Genetic Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-56454-8_19
Download citation
DOI: https://doi.org/10.1007/978-3-319-56454-8_19
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-56453-1
Online ISBN: 978-3-319-56454-8
eBook Packages: MedicineMedicine (R0)