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X-linked myotubular myopathy
In 1966, Spiro, Shy and Gonatas described the muscle pathology of an adolescent boy with diffuse muscle weakness that included involvement of the facial and extraocular muscles [1]. The appearance of the muscle was reminiscent of fetal myotubes, and the authors termed the condition “myotubular myopathy”. While the precise nature and etiology of the unusual myofibers identified by Spiro remain unclear, the terminology has persisted.
Source: Neuromuscular Disorders - October 1, 2021 Category: Neurology Authors: Michael W. Lawlor, James J. Dowling Tags: Review Source Type: research

Disrupted T-tubular network accounts for asynchronous calcium release in MTM1 deficient skeletal muscle
This article is protected by copyright. All rights reserved.PMID:36408764 | DOI:10.1113/JP283650
Source: The Journal of Physiology - November 21, 2022 Category: Physiology Authors: Peter Szentesi Beatrix Dienes Candice Kutchukian Tamas Czirjak Ana Buj-Bello Vincent Jacquemond Laszlo Csernoch Source Type: research

Structural rationale to understand the effect of disease-associated mutations on Myotubularin
Curr Res Struct Biol. 2023 Mar 22;5:100100. doi: 10.1016/j.crstbi.2023.100100. eCollection 2023.ABSTRACTMyotubularin or MTM1 is a lipid phosphatase that regulates vesicular trafficking in the cell. The MTM1 gene is mutated in a severe form of muscular disease, X-linked myotubular myopathy or XLMTM, affecting 1 in 50,000 newborn males worldwide. There have been several studies on the disease pathology of XLMTM, but the structural effects of missense mutations of MTM1 are underexplored due to the unavailability of a crystal structure. MTM1 consists of three domains-a lipid-binding N-terminal GRAM domain, the phosphatase doma...
Source: Cell Research - April 27, 2023 Category: Cytology Authors: Teerna Bhattacharyya Avishek Ghosh Shailya Verma Padinjat Raghu Ramanathan Sowdhamini Source Type: research

Molecular therapies: present and future in neuromuscular diseases
CONCLUSION: Clinical research in the field of molecular therapy of neuromuscular diseases is one of the pacesetters of modern precision medicine; however, challenges need to be seen, jointly addressed and overcome in the future.PMID:37221259 | DOI:10.1007/s00115-023-01495-3
Source: Der Nervenarzt - May 23, 2023 Category: Neurology Authors: Andreas Ziegler Maggie C Walter Benedikt E Schoser Source Type: research

Kate Therapeutics Debuts With $51 Million Series A to Develop Next-Generation Genetic Medicines to Treat Muscle and Heart Diseases
Series A financing co-led by Westlake Village BioPartners and Versant Ventures Company advancing systemically delivered, skeletal and cardiac muscle targeted, liver de-targeted capsid and cargo technology platforms Initial pipeline addressing myotoni... Regenerative Medicine, Venture Capital Kate Therapeutics, gene therapy, X-linked myotubular myopathy
Source: HSMN NewsFeed - June 8, 2023 Category: Pharmaceuticals Source Type: news

SLCO1B1 Polymorphisms and Statin-Induced Myopathy
Clinical scenario Statins are 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors which reduce the risk of coronary events and death by lowering blood concentrations of low density lipoprotein cholesterol (LDL-c).1,2,3,4 They are generally regarded as safe and well tolerated. However, some patients experience adverse muscle symptoms; these are mostly relatively mild but, in rare cases, severe muscle damage with renal failure (rhabdomyolysis) may occur (reviewed in 5,6). Recently, an autoimmune form of necrotising myositis has also been identified as a rare statin-associated myopathy (reviewed in 7). There ...
Source: PLOS Currents Evidence on Genomic Tests - December 4, 2013 Category: Genetics & Stem Cells Authors: Alison Stewart Source Type: research

Genetic Analysis Reveals that GNE Myopathy is an Underdiagnosed Neuromuscular Disorder (P2.044)
CONCLUSIONS: The unrecognized high prevalence of GNE myopathy (~ 40,000 patients worldwide; ~3000 patients in USA, instead of previously estimated ~ 400) confirms suspicions that many patients escape diagnosis. Indeed, our ongoing natural history study revealed significant diagnostic delay (~10 years) after initial symptoms in most patients, due to the rare nature of the disease and the lack of conclusive, inexpensive diagnostic tests. Genetic testing for pathogenic, bi-allelic GNE variants ultimately confirms the diagnosis. GNE myopathy should be considered in any young adult with distal, lower extremity muscle weakness. ...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Huizing, M., Malicdan, M. C., Celeste, F., Vilboux, T., Ciccone, C., Gahl, W., Carrillo-Carrasco, N. Tags: Muscle Disease: Genetics, Pathogenesis, and Pathology Source Type: research

Amyloid Myopathy With and Without Systemic Amyloidosis (S54.006)
Conclusions:About 1/3 of amyloid myopathy patients have amyloid deposits exclusively in skeletal muscle. Molecular defects remain unknown in 45% of patients with isolated amyloid myopathy. Anoctaminopathy-5 accounts for 80% of genetically-diagnosed isolated amyloid myopathy. Clinical, laboratory and pathological features may help differentiate between amyloid myopathy with and without systemic amyloidosis.Disclosure: Dr. Liewluck has nothing to disclose. Dr. Milone has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Liewluck, T., Milone, M. Tags: Motor Neuron Disease and Myopathies Source Type: research

Characterization of Isolated Amyloid Myopathy
ConclusionsIsolated amyloid myopathy accounts for 27% of patients with amyloid myopathy, and mostly due to anoctaminopathy‐5. There are various clinical and laboratory parameters that can help differentiating isolated amyloid myopathy from systemic amyloidosis.This article is protected by copyright. All rights reserved.
Source: European Journal of Neurology - September 9, 2017 Category: Neurology Authors: Teerin Liewluck, Margherita Milone Tags: Original Article Source Type: research

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy
Conclusions: Accurate estimates of the prevalence of congenital myopathy are fundamental to supporting public health decision-making. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher-quality studies on orphan diseases.
Source: Frontiers in Neurology - November 2, 2021 Category: Neurology Source Type: research

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
Conclusions: Our patients expand the phenotypic spectrum of DNAJB6-myopathy and allow tentative genotype-phenotype specifications. Combining with previous studies, the clinical severity spectrum is as follows: ΔG/F and Phe91 mutations, most severe; Phe100, Pro96, Phe89 mutations, intermediate; and Phe93, least severe. As it stands presently, proximal G/F domain mutations (Phe89, Phe91, Phe93) cause proximal limb-girdle myopathy, while distal G/F mutations (Pro96, Phe100) cause distal-onset myopathy. While all mutations affect the G/F–J interaction, each likely does so in different unknown extents or ways. One mutation, ...
Source: Epidemiologic Perspectives and Innovations - July 24, 2015 Category: Epidemiology Authors: Alessandra RuggieriFrancesco BrancatiSimona ZanottiLorenzo MaggiMaria PasanisiSimona SarediChiara TerraccianoCarlo AntozziMaria D′ApiceFederica SangiuoloGiuseppe NovelliChristian MarshallStephen SchererLucia MorandiLuca FedericiRoberto MassaMarina MoraB Source Type: research

Immune-Mediated Necrotizing Myopathy
AbstractPurpose of ReviewImmune-mediated necrotizing myopathy (IMNM) is a type of autoimmune myopathy characterized by relatively severe proximal weakness, myofiber necrosis with minimal inflammatory cell infiltrate on muscle biopsy, and infrequent extra-muscular involvement. Here, we will review the characteristics of patients with IMNM.Recent FindingsAnti-signal recognition particle (SRP) and anti-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) autoantibodies are closely associated with IMNM and define unique subtypes of patients. Importantly, the new European Neuromuscular Centre criteria recognize anti-SRP myopathy, ant...
Source: Current Rheumatology Reports - March 26, 2018 Category: Rheumatology Source Type: research

Prevalence and Socioeconomic Status of Patients with Genetic Myopathy in Korea: A Nationwide, Population-Based Study
Conclusions: Our study was the first nationwide epidemiologic study of the prevalence and socioeconomic status of patients with genetic myopathy in Korea. Our results confirmed a sex divergence in a younger population and those with low socioeconomic status among patients with genetic myopathy.Neuroepidemiology
Source: Neuroepidemiology - June 14, 2019 Category: Epidemiology Source Type: research

GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy
We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had been dismissed as “clumsiness.” Exam and electrodiagnostic testing suggested a predominately distal myopathy. Muscle biopsy of the left tibialis anterior revealed rimmed vacuoles and, interestingly, also had characteristic features of a myofibrillar myopathy. Genetic testing confirmed a diagnosis of autosomal recessive GNE myopathy in both ...
Source: Journal of Clinical Neuromuscular Disease - November 26, 2020 Category: Neurology Tags: Case Review Source Type: research