Navegando por Palavras-chave "myotubular myopathy"

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    Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset
    (Academia Brasileira de Neurologia - ABNEURO, 1998-03-01) Zanoteli, Edmar [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset. We describe herein the muscle biopsy findings of ten patients with the childhood onset form of the disease including three cases with ultrastructural study. The biopsies disclosed increased nuclear centralization that varied from 25 to 90% of the fibers, type 1 predominance, great variability in fiber diameters, involvement in the internal fiber's architecture, and focal areas of myofilament disorganization. The main histopathologic differential diagnoses included type I fiber predominance, congenital fiber type disproportion, and myotonic dystrophy. The histologic abnormalities in centronuclear myopathy may be due to an arrest of maturation on the fetal myotubular stage. The cause of this arrest remains elusive.
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    Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype-Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
    (Wiley-Blackwell, 2012-06-01) Boehm, Johann; Biancalana, Valerie; DeChene, Elizabeth T.; Bitoun, Marc; Pierson, Christopher R.; Schaefer, Elise; Karasoy, Hatice; Dempsey, Melissa A.; Klein, Fabrice; Dondaine, Nicolas; Kretz, Christine; Haumesser, Nicolas; Poirson, Claire; Toussaint, Anne; Greenleaf, Rebecca S.; Barger, Melissa A.; Mahoney, Lane J.; Kang, Peter B.; Zanoteli, Edmar; Vissing, John; Witting, Nanna; Echaniz-Laguna, Andoni; Wallgren-Pettersson, Carina; Dowling, James; Merlini, Luciano; Oldfors, Anders; Ousager, Lilian Bomme; Melki, Judith; Krause, Amanda; Jern, Christina; Oliveira, Acary S. B. [UNIFESP]; Petit, Florence; Jacquette, Aurelia; Chaussenot, Annabelle; Mowat, David; Leheup, Bruno; Cristofano, Michele; Poza Aldea, Juan Jose; Michel, Fabrice; Furby, Alain; Barcena Llona, Jose E.; Van Coster, Rudy; Bertini, Enrico; Urtizberea, Jon Andoni; Drouin-Garraud, Valerie; Beroud, Christophe; Prudhon, Bernard; Bedford, Melanie; Mathews, Katherine; Erby, Lori A. H.; Smith, Stephen A.; Roggenbuck, Jennifer; Crowe, Carol A.; Spitale, Allison Brennan; Johal, Sheila C.; Amato, Anthony A.; Demmer, Laurie A.; Jonas, Jessica; Darras, Basil T.; Bird, Thomas D.; Laurino, Mercy; Welt, Selman I.; Trotter, Cynthia; Guicheney, Pascale; Das, Soma; Mandel, Jean-Louis; Beggs, Alan H.; Laporte, Jocelyn; Univ Strasbourg; Nouvel Hop Civil; Harvard Univ; Univ Paris 06; Ege Univ; Univ Chicago; Universidade de São Paulo (USP); Univ Copenhagen; Hop Civil; Folkhalsan Inst Genet; Univ Helsinki; Univ Michigan; Inst Ortoped Rizzoli; Sahlgrens Univ Hosp; Odense Univ Hosp; Univ Paris 11; Univ Witwatersrand; Univ Gothenburg; Universidade Federal de São Paulo (UNIFESP); Ctr Hosp Reg Univ; GH Pitie Salpetriere; Ctr Hosp Univ Nice; Sydney Childrens Hosp; CHU Nancy; Univ Lorraine; Azienda Osped Pisana; Hosp Donostia; CHU; Hop Nord St Etienne; Hosp Univ Cruces; Ghent Univ Hosp; Bambino Gesu Childrens Res Hosp; Hop Marin; Hop Rouen; INSERM; N York Gen Hosp; Univ Iowa; Johns Hopkins Bloomberg Sch Publ Hlth; Johns Hopkins Sch Med; Hennepin Cty Med Ctr; Gillette Childrens Specialty Healthcare; Childrens Hosp & Clin Minnesota; Case Western Reserve Univ; Tufts Med Ctr; Univ Washington; VA Med Ctr; Texas Tech Univ
    Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. in total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. in addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. in this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33: 949-959, 2012. (C) 2012 Wiley Periodicals, Inc.