Results 21 to 30 of about 48,192 (208)

Congenital Nemaline Myopathy

Pediatric Neurology Briefs, 1994
A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj   +1 more source

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
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A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease

Pediatric Rheumatology Online Journal, 2021
Background Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis and excitation-contraction coupling.
Min Jung Kim, Mi Hyeon Kim, Sung-Hye Park, Yeong Wook Song   +3 more
doaj   +1 more source

A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report

BMC Neurology, 2023
Background Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon.
João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues   +7 more
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Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

American Journal of Perinatology Reports, 2021
Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng, Raymond C. Stetson, Bethany D. Kaemingk, David A. Bieber, Jane E. Brumbaugh   +4 more
doaj   +1 more source

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies [PDF]

, 2014
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome.
Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Clarke, Nigel F., de Visser, Marianne, Eymard, Bruno, Frydman, Moshe, Gerard, Marion, Gilbert-Dussardier, Brigitte, Grönholm, Mikaela, Hogue, Jacob S., Kang, Peter B., Klinge, Lars, Kolski, Hanna, Laing, Nigel G., Lehtokari, Vilma-Lotta, Lochmüller, Hans, Longman, Cheryl, Magy, Laurent, Manel, Véronique, Marston, Steven, Marttila, Minttu, Mayer, Michèle, Mercuri, Eugenio, Monnier, Nicole, North, Kathryn N., Nowak, Kristen, Nyman, Tuula A., Pelin, Katarina, Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, Wallgren-Pettersson, Carina, Wilichowski, Ekkehard, Winder, Tom L., Winer, John   +40 more
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Miopatías congénitas

Revista Médica Clínica Las Condes, 2018
: Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
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A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2021
Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak, Przemko Kwinta   +8 more
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カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]

, 2019
博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core   +2 more sources