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Total 61 results found since Jan 2013.

Congenital myopathies – centronuclear myopathies
The mode of inheritance of X-linked myotubular myopathy (XL-MTM) is currently considered recessive and the proportion of manifesting carriers is assumed low. We aimed to characterize the spectrum of clinical signs and symptoms in a cohort of female XL-MTM carriers, including prevalence, genetic features and associated disease burden. We performed a cross-sectional online questionnaire study among XL-MTM carriers, recruiting from patient associations, medical centres and registries in the United Kingdom, Germany and the Netherlands.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: F. Braun, S. Reumers, J. Spillane, J. Bohm, M. Pennings, M. Schouten, A. van der Kooi, A. Foley, C. B önnemann, E. Kamsteeg, C. Erasmus, U. Schara-Schmidt, H. Jungbluth, N. Voermans Source Type: research

Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G   >  A in Hong Kong Chinese.
This article is protected by copyright. All rights reserved. PMID: 32022900 [PubMed - as supplied by publisher]
Source: Clinical Genetics - February 4, 2020 Category: Genetics & Stem Cells Authors: Lee HH, Wong S, Sheng B, Pan NK, Leung YF, Lau KD, Cheng YS, Luen-Cheung H, Richard L, Lee CN, Tsoi TH, Cheung YN, Yat-Pang Michael F, Kan NA, Chu YJ, Wing-Chi Lisa A, Yeung HJ, Siu-Hung L, Cheung CM, Tong HE, Hung LE, Chan TY, Chi Terence L, Tong TT, Ton Tags: Clin Genet Source Type: research

First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease
Mutations in the MATR3 gene are associated to distal myopathy with vocal cord and pharyngeal weakness (VCPDM), as well as familiar and sporadic motor neuron disease. To date, 12 VCPDM families from the United States, Germany, Japan, Bulgary, and France have been described in the literature. Here we report an Italian family with a propositus of a 40-year-old woman presenting progressive bilateral foot drop, rhinolalia, and distal muscular atrophy, without clinical signs of motor neuron affection. Her father, deceased some years before, presented a similar distal myopathy phenotype, while her 20-year-old son is asymptomatic....
Source: Frontiers in Neurology - October 1, 2021 Category: Neurology Source Type: research

What Is in the Myopathy Literature?
We cover intensive care unit–acquired neuromuscular disorders associated with coronavirus disease 2019. Outcomes may be worse than expected in these patients, and there is some evidence that coronavirus disease 2019 causes myopathy directly. Corticosteroid regimens in Duchenne muscular dystrophy are addressed including outcomes in pulmonary and cardiac function. A recent article notes a continued diagnostic delay in Duchenne muscular dystrophy. An interesting report of a Canary Islands cohort of patients with oculopharyngeal muscular dystrophy is discussed. Features and clinical pearls related to a series of patients wit...
Source: Journal of Clinical Neuromuscular Disease - September 1, 2022 Category: Neurology Tags: Review Article Source Type: research

Novel Nonsense Mutation in < b > < i > SLC39A13 < /i > < /b > Initially Presenting as Myopathy: Case Report and Review of the Literature
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings. Exome sequencing revealed a novel homozygous nonsense mutation in theSLC39A13gene, c...
Source: Molecular Syndromology - January 23, 2018 Category: Molecular Biology Source Type: research

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings. Exome sequencing revealed a novel homozygous nonsense mutation in theSLC39A13gene, c...
Source: Molecular Syndromology - January 24, 2018 Category: Molecular Biology Source Type: research

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy
We present here an extended family of German Hunting Terriers with 10 dogs affected by clinical signs of exercise induced weakness, muscle pain, and suspected rhabdomyolysis. The combination of clinical signs, muscle histopathology and acylcarnitine analysis with an elevated tetradecenoylcarnitine (C14:1) peak suggested a possible diagnosis of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD). Whole genome sequence analysis of one affected dog and 191 controls revealed a nonsense variant in the ACADVL gene encoding acyl-CoA dehydrogenase very long chain, c.1728C>A or p.(Tyr576*). The variant showed perfect ass...
Source: G3: Genes Genomes Genetics - May 4, 2018 Category: Genetics & Stem Cells Authors: Lepori, V., Muhlhause, F., Sewell, A. C., Jagannathan, V., Janzen, N., Rosati, M., Alves de Sousa, F. M. M., Tschopp, A., Schupbach, G., Matiasek, K., Tipold, A., Leeb, T., Kornberg, M. Tags: Investigations Source Type: research

Patients with low IGF-I after curative surgery for Cushing's syndrome have an adverse long-term outcome of hypercortisolism-induced myopathy
CONCLUSION: Lower individual IGF-I concentrations six months after curative surgery for Cushing's syndrome are associated with adverse long-term myopathy outcome and IGF-I might be essential for muscle regeneration in the early phase after correction of hypercortisolism.PMID:33830940 | DOI:10.1530/EJE-20-1285
Source: European Journal of Endocrinology - April 8, 2021 Category: Endocrinology Authors: Frederick Vogel Leah Braun German Rubinstein Stephanie Zopp Sarina Benedix Holger Schneider Katrin Ritzel Katharina Schilbach Ralf Schmidmaier Felix Beuschlein Martin Bidlingmaier Martin Reincke Source Type: research

P.159Disease spectrum in nemaline myopathy due to LMOD3 mild founder mutation in Austria and southern Germany
To date, more than 10 genes are known to be causatively involved in nemaline myopathy (NEM). In 2014, a severe form of NEM with prenatal or neonatal onset and substantial risk of death in early childhood, caused by truncating mutations in LMOD3 was identified and denoted as NEM10. In 2018, we reported four unrelated patients from Austria and Germany (Bavaria) with a milder phenotype and disease course. In contrast to the previously described severe phenotype, these patients reached the ability to walk and survived into adulthood.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Weiss, U. Schatz, J. Zschoke, S. Wenninger, B. Schoser, S. Rudnik-Schoeneborn, W. Muss, A. Schossig, W. Schmidt, R. Bittner, G. Bernert, M. Baumann Source Type: research

Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells
Discussion Treg represent a lineage of T cells which play a fundamental role in maintaining humoral tolerance in the periphery. This subset of “suppressor T cells” is identified as FoxP3-expressing CD4+ T cells (16, 17). The unrestrained expression of FoxP3 is essential for the development and function of Treg (4). Accordingly, a disruption of the Foxp3 gene in scurfy mice results in an autoimmune lymphoproliferative disorder with fatal multi-organ inflammation (18). Since the causative mutation occurs in orthologous genes, the scurfy phenotype is indicated as the murine equivalent of the human IPEX sy...
Source: Frontiers in Immunology - April 23, 2019 Category: Allergy & Immunology Source Type: research

Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis
Conclusions: Anti-NT5c1A has moderate sensitivity and high specificity for sIBM using ALBIA. The presence of anti-NT5c1A antibodies may be associated with muscle weakness. Anti-NT5c1A antibodies were not associated with a specific IIF staining pattern, hence screening using HEp-2 substrate is unlikely to be a useful predictor for presence of these autoantibodies. Introduction Sporadic Inclusion Body Myositis (sIBM) is one subset of idiopathic inflammatory myopathies (IIM) that is characterized by a clinical presentation of asymmetrical muscle involvement, predominantly affecting the long finger flexors, quadriceps mu...
Source: Frontiers in Immunology - April 8, 2019 Category: Allergy & Immunology Source Type: research