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Mitochondrial dysfunction in neuromuscular disorders.
Katsetos CD, Koutzaki S, Melvin JJ. Katsetos CD, et al. Semin Pediatr Neurol. 2013 Sep;20(3):202-15. doi: 10.1016/j.spen.2013.10.010. Epub 2013 Nov 5. Semin Pediatr Neurol. 2013. PMID: 24331362 Review.
Special emphasis is given to well-characterized mt abnormalities in collagen VI myopathies (Ullrich congenital muscular dystrophy and Bethlem myopathy), megaconial congenital muscular dystrophy, limb-girdle muscular dystrophy type 2 (calpainopathy), centronuc …
Special emphasis is given to well-characterized mt abnormalities in collagen VI myopathies (Ullrich congenital muscular dystrophy and Bet …
[Unraveling the pathophysiology of Bethlem Myopathy using a unique zebrafish model for the disease].
Idoux R, Bretaud S, Berthier C, Jacquemond V, Ruggiero F, Allard B. Idoux R, et al. Med Sci (Paris). 2019 Nov;35 Hors série n° 2:39-42. doi: 10.1051/medsci/2019182. Epub 2019 Dec 20. Med Sci (Paris). 2019. PMID: 31859630 Free article. Review. French.
Bethlem myopathy (BM) is a neuromuscular disease characterized by joint contractures and muscle weakness. ...Therefore, our project aims at exploring the properties of ion channels and intracellular Ca(2+) regulation using electrophysiological approaches and …
Bethlem myopathy (BM) is a neuromuscular disease characterized by joint contractures and muscle weakness. ...Therefore, our pr …
Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.
Bernardi P, Bonaldo P. Bernardi P, et al. Cold Spring Harb Perspect Biol. 2013 May 1;5(5):a011387. doi: 10.1101/cshperspect.a011387. Cold Spring Harb Perspect Biol. 2013. PMID: 23580791 Free PMC article. Review.
Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy (BM), and Congenital Myosclerosis are diseases caused by mutations in the genes encoding the extracellular matrix protein collagen VI. A dystrophic mouse model, where collagen VI synthesis was prevented …
Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy (BM), and Congenital Myosclerosis are diseases caused by mutati …
Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies.
Bernardi P, Bonaldo P. Bernardi P, et al. Ann N Y Acad Sci. 2008 Dec;1147:303-11. doi: 10.1196/annals.1427.009. Ann N Y Acad Sci. 2008. PMID: 19076452 Review.
Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are muscle diseases due to mutations in the genes encoding the extracellular matrix protein collagen VI. Generation of a dystrophic mouse model where collagen VI synthesis was prevented by geneti …
Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM) are muscle diseases due to mutations in the genes encod …
Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.
Bönnemann CG, Finkel RS. Bönnemann CG, et al. Semin Pediatr Neurol. 2002 Jun;9(2):81-99. doi: 10.1053/spen.2002.33795. Semin Pediatr Neurol. 2002. PMID: 12139001 Review.
The molecular findings are correlated with some of the clinical phenotypes that are part of the limb-girdle muscular dystrophy spectrum, including fukutin-related proteinopathy (LGMD 21), the sarcoglycanopathies (LGMD 2C-F), caveolinopathy (LGMD 1C), dysferlinopathy (LGMD 2B), an …
The molecular findings are correlated with some of the clinical phenotypes that are part of the limb-girdle muscular dystrophy spectrum, inc …
Sarcolemmopathy: muscular dystrophies with cell membrane defects.
Ozawa E, Nishino I, Nonaka I. Ozawa E, et al. Brain Pathol. 2001 Apr;11(2):218-30. doi: 10.1111/j.1750-3639.2001.tb00394.x. Brain Pathol. 2001. PMID: 11303797 Free PMC article. Review.
In this article, we review the molecular pathology of muscular dystrophies caused by defects of proteins located within or near cell membranes. These disorders include Bethlem myopathy, merosinopathy, dystrophinopathy, sarcoglycanopathies, integrinopathy, dysferlino …
In this article, we review the molecular pathology of muscular dystrophies caused by defects of proteins located within or near cell membran …
Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports.
Urtizberea JA, Thambyayah M, Nishino I, Megarbane A. Urtizberea JA, et al. Acta Myol. 2005 Oct;24(2):78-9. Acta Myol. 2005. PMID: 16550920 Review.
Besides well-defined and rather readily recognisable hereditary syndromes such as Bethlem myopathy or Ullrich congenital muscular dystrophy, some unusual etiologies should also be considered. ...
Besides well-defined and rather readily recognisable hereditary syndromes such as Bethlem myopathy or Ullrich congenital muscu …