Results 41 to 50 of about 4,222 (202)

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice [PDF]

, 2017
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and
Alves, MM, Brooks, AS, Brosens, E, Brouwer, RWW, Burns, AJ, Christie, CK, de Mesy Bentley, KL, Djuwantono, T, Doukas, M, Halim, D, Han, Y, Hofstra, RMW, Jin, ZG, Lyu, Q, Miano, JM, Nanda, V, Oliver, D, Slivano, OJ, Stoop, H, Tibboel, D, van IJcken, WFJ, Verheij, JBGM, Wilson, MP, Xu, S, Yan, W   +24 more
core   +7 more sources

WHY IS THERE A LIMIT TO THE CHANGES IN MYOFILAMENT Ca2+-SENSITIVITY ASSOCIATED WITH MYOPATHY CAUSING MUTATIONS? [PDF]

, 2016
Mutations in striated muscle contractile proteins have been found to be the cause of a number of inherited muscle diseases; in most cases the mechanism proposed for causing the disease is derangement of the thin filament-based Ca2+-regulatory systemof ...
Marston, SB
core   +5 more sources

Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers [PDF]

, 2015
Aims: Nebulette is a 109 kDa modular protein localized in the sarcomeric Z-line of the heart. In vitro studies have suggested a role of nebulette in stabilizing the thin filament, and missense mutations in the nebulette gene were recently shown to be ...
Bang, Marie-Louise, Carullo, Pierluigi, Chen, Ju, Dalton, Nancy D., Gu, Yusu, Li, Xiaodong, Liang, Xingqun, Mastrototaro, Giuseppina, Peterson, Kirk L., Piroddi, Nicoletta, Poggesi, Corrado, Sheikh, Farah, Tesi, Chiara   +12 more
core   +2 more sources

The clinicopathological characteristics analysis and differential diagnosis of muscle disorder cases with nemaline⁃shaped structure

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng, LI Chun⁃yao, LIU Xiang⁃yi, GUO Wen⁃yang, MENG Qing⁃yang, ZHONG Yan⁃feng, ZHANG Ying⁃shuang   +6 more
doaj   +1 more source

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
This journal suppl. entitled: 20th International Congress of The World Muscle SocietyCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features.
Chan, AOK, Chan, HSS, Chan, TSK, Cheng, Y, Cherk, SWW, Fung, STH, Ho, RSL, Ip, JJK, Lam, WMW, Lee, CN, Lee, HCH, Liu, KT, Ng, GSF, Shek, WH, Wong, S, Wong, VCN   +15 more
core   +1 more source

Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

BMC Research Notes, 2009
Background Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with α-skeletal muscle actin mutations. We previously showed that actin mutations can cause four
Vandamme Drieke, Lambert Ellen, Waterschoot Davy, Tondeleir Davina, Vandekerckhove Joël, Machesky Laura M, Constantin Bruno, Rommelaere Heidi, Ampe Christophe   +8 more
doaj   +1 more source

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy

Disease Models & Mechanisms, 2014
Nemaline myopathy is an inherited muscle disease that is mainly diagnosed by the presence of nemaline rods in muscle biopsies. Of the nine genes associated with the disease, five encode components of striated muscle sarcomeres.
Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie   +6 more
doaj   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Anesthetic care for a child with undiagnosed myopathic/mitochondrial disease for gastrostomy tube placement and muscle biopsy. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2020
Disorders of the motor nerves, neuromuscular junction or muscle can affect children of all ages. These patients may present for therapeutic or diagnostic procedures (muscle and nerve biopsy) prior to arrival at a definitive diagnosis.
D. M. Munlemvo, A. Syed, N. Kimmet, S. Hayes, J. D. Tobias   +4 more
doaj   +1 more source

Tissue Triage and Freezing for Models of Skeletal Muscle Disease [PDF]

, 2014
Skeletal muscle is a unique tissue because of its structure and function, which requires specific protocols for tissue collection to obtain optimal results from functional, cellular, molecular, and pathological evaluations.
Beggs, Alan H., Childers, Martin K., Cossette, Stacy A., Frase, Alison, Grange, Robert W., Granzier, Henk, Gussoni, Emanuela, Janssen, Paul M.L., Lawlor, Michael W., Meng, Hui, Swanson, Lindsay C., Yang, Lin   +11 more
core   +2 more sources