Results 31 to 40 of about 69,426 (175)

Nemaline Myopathy

Pediatric Neurology Briefs, 1988
A boy, 5 years of age, with nemaline myopathy complicated by respiratory failure and hypertrophic cardiomyopathy is reported from the Albany Medical College, Albany, NY.
J Gordon Millichap
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The spectrum of congenital myopathies in Romania – a pathological retrospective study [PDF]

Romanian Journal of Neurology, 2015
Objectives. Congenital myopathies (CM) are a highly heterogeneous group of disorders with genetic cause, characterized by motor deficit and weakness usually manifesting in the neonatal period, with slowly progressive or non-progressive course and ...
Alexandra Eugenia Bastian, Vlad Mageriu, Emilia Manole   +2 more
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Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Journal of Behçet Uz Children's Hospital, 2019
The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders
Sinem Akbay, Esra Ozer, Ozkan Ilhan, Berat Kanar, Seyma Memur, Gulden Diniz, Dilek Cavusoglu, Nihal Olgaç Dündar   +7 more
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Rare nemaline myopathy (a case report)

Гений oртопедии, 2022
Introduction Nemaline myopathies (NM) are a group of neuromuscular diseases, the distinctive histological feature of which are nemaline rods in myosymplasts.
Nikolai S. Migalkin, Galina N. Filimonova, Oksana G. Prudnikova, Igor N. Mezentsev   +3 more
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Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature

Clinical and Experimental Obstetrics & Gynecology, 2020
Objective: In this article we present a case of fetal nemaline myopathy (NM) diagnosed by whole-exome sequencing (WES) and confirmed by fetal muscular pathology, and we review the clinical, pathological, and genetic characteristics of congenital NM ...
Q.C. Wu, L. Sun, Y.S. Xu, X.M. Yang, L.K. Zheng   +4 more
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Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases

Case Reports in Medicine, 2012
We examined whether immunological abnormalities can be found in the specimens of four childhood-onset nemaline myopathy (NM) patients without autoimmune diseases. Pathological examination revealed that nemaline rods were found in all specimens.
Chao Jiang, Jianping Wang, Haidong Lu
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A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation

Molecular Genetics & Genomic Medicine, 2022
Background Actin, alpha, skeletal muscle 1 (ACTA1) is one of the causative genes of nemaline myopathy (NM) and congenital fiber‐type disproportion (CFTD).
Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada‐Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata   +11 more
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Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Orphanet Journal of Rare Diseases, 2017
Background Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers.
Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis, Kristl G. Claeys   +20 more
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A Nemaline Myopathy Presenting with Perinatal Asphyxia

, 2015
Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia.
Nisa Eda Çullas İlarslan, Nihan Hilal Hoșağası, Engin Demir, Nurullah Okumuș, Dilek Dilli, Beril Talim, Ayșe Aksoy, Ayșegül Zenciroğlu   +7 more
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Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Skeletal Muscle, 2011
Background Nemaline myopathy (NM) is a congenital muscle disease associated with weakness and the presence of nemaline bodies (rods) in muscle fibers. Mutations in seven genes have been associated with NM, but the most commonly mutated gene is nebulin ...
Lawlor Michael W, Ottenheijm Coen A, Lehtokari Vilma-Lotta, Cho Kiyomi, Pelin Katarina, Wallgren-Pettersson Carina, Granzier Henk, Beggs Alan H   +7 more
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