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1995 2
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The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?
Chu ML, Moran E. Chu ML, et al. Neurotherapeutics. 2018 Oct;15(4):849-862. doi: 10.1007/s13311-018-0648-x. Neurotherapeutics. 2018. PMID: 30019308 Free PMC article. Review.
There has been an ever-expanding list of the Limb-Girdle Muscular Dystrophies (LGMD). There are currently 8 subtypes of autosomal dominant (AD) and 26 subtypes of autosomal recessive (AR) LGMD. ...
There has been an ever-expanding list of the Limb-Girdle Muscular Dystrophies (LGMD). There are currently 8 subt …
Hereditary inclusion-body myopathies.
Broccolini A, Mirabella M. Broccolini A, et al. Biochim Biophys Acta. 2015 Apr;1852(4):644-50. doi: 10.1016/j.bbadis.2014.08.007. Epub 2014 Aug 19. Biochim Biophys Acta. 2015. PMID: 25149037 Free article. Review.
The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle disorders with autosomal recessive or dominant inheritance and presence of muscle fibers with rimmed vacuoles and collection of cytoplasmic or nuclear 15-21 nm diameter tubulofilame …
The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle disorders with autosomal recessive or dominan …
Update on the genetics of limb girdle muscular dystrophy.
Mitsuhashi S, Kang PB. Mitsuhashi S, et al. Semin Pediatr Neurol. 2012 Dec;19(4):211-8. doi: 10.1016/j.spen.2012.09.008. Semin Pediatr Neurol. 2012. PMID: 23245554 Review.
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders characterized by progressive muscle weakness with dystrophic muscle pathology caused by autosomal dominant or recessive gene mutations. ...Interestingly, …
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders characterized by progressive …
Myopathies with finger flexor weakness: Not only inclusion-body myositis.
Nicolau S, Liewluck T, Milone M. Nicolau S, et al. Muscle Nerve. 2020 Oct;62(4):445-454. doi: 10.1002/mus.26914. Epub 2020 Jun 1. Muscle Nerve. 2020. PMID: 32478919 Review.
Prominent finger flexor weakness, however, is also observed in other myopathies. It occurs commonly in myotonic dystrophy types 1 and 2. In addition, individual reports and small case series have documented finger flexor weakness in sarcoid and amyloid myopathy, and in inh …
Prominent finger flexor weakness, however, is also observed in other myopathies. It occurs commonly in myotonic dystrophy types 1 and …
The nuclear envelope in muscular dystrophy and cardiovascular diseases.
Burke B, Mounkes LC, Stewart CL. Burke B, et al. Traffic. 2001 Oct;2(10):675-83. doi: 10.1034/j.1600-0854.2001.21001.x. Traffic. 2001. PMID: 11576443 Free article. Review.
These disorders, described as laminopathies or nuclear envelopathies, include both X-linked and autosomal dominant forms of Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy with conduction system defects, limb girdle muscular …
These disorders, described as laminopathies or nuclear envelopathies, include both X-linked and autosomal dominant forms of Em …
[Calpainopathies: state of the art and therapeutic perspectives].
Malfatti E, Richard I. Malfatti E, et al. Med Sci (Paris). 2020 Dec;36 Hors série n° 2:17-21. doi: 10.1051/medsci/2020244. Epub 2021 Jan 11. Med Sci (Paris). 2020. PMID: 33427631 Free article. Review. French.
Calpainopathies are inherited limb-girdle muscular dystrophies, most often following an autosomal recessive (AR) transmission. ...Calpainopathies with autosomal recessive (AR) mutations of the calpain3 gene (CAPN3) are associated with …
Calpainopathies are inherited limb-girdle muscular dystrophies, most often following an autosomal recessi …
Nuclear envelope proteins and neuromuscular diseases.
Ostlund C, Worman HJ. Ostlund C, et al. Muscle Nerve. 2003 Apr;27(4):393-406. doi: 10.1002/mus.10302. Muscle Nerve. 2003. PMID: 12661041 Review.
Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss muscular dystrophy is caused by mutations in emerin (X-linked) or A-type lamins (autosomal dominant). Mutations in A-ty …
Several neuromuscular diseases are caused by mutations in emerin and A-type lamins, proteins of the nuclear envelope. Emery-Dreifuss musc …
[Clinical and genetic heterogeneity of limb-girdle muscular dystrophy].
Kozłowska M. Kozłowska M. Neurol Neurochir Pol. 1995 Jul-Aug;29(4):569-75. Neurol Neurochir Pol. 1995. PMID: 8544936 Review. Polish.
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of dystrophies in which weakness and wasting initially appear at proximal groups of pelvic and shoulder girdles. ...Clinical and genetic studies of a large cohort of patients with …
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of dystrophies in which weakness and wasti …
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.
Saini-Chohan HK, Mitchell RW, Vaz FM, Zelinski T, Hatch GM. Saini-Chohan HK, et al. J Lipid Res. 2012 Jan;53(1):4-27. doi: 10.1194/jlr.R012120. Epub 2011 Nov 7. J Lipid Res. 2012. PMID: 22065858 Free PMC article. Review.
As the specific composition of lipids is essential for the maintenance of membrane integrity, enzyme function, ion channels, and membrane receptors, an alteration in lipid composition or metabolism may be one of the crucial changes occurring during skeletal and cardiac myopathies …
As the specific composition of lipids is essential for the maintenance of membrane integrity, enzyme function, ion channels, and membrane re …
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Woodman SE, et al. Neurology. 2004 Feb 24;62(4):538-43. doi: 10.1212/wnl.62.4.538. Neurology. 2004. PMID: 14981167 Review.
Improper caveolin-3 oligomerization and membrane localization result in skeletal muscle T-tubule system derangement, sarcolemmal membrane alterations, and large subsarcolemmal vesicle formation. To date, there have been eight autosomal dominant caveolin-3 mutations …
Improper caveolin-3 oligomerization and membrane localization result in skeletal muscle T-tubule system derangement, sarcolemmal membrane al …
11 results