Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain

AbstractLimb-girdle muscular dystrophies (LGMD) are a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic and shoulder girdle muscles. Twenty-four recessive LGMD (types R1 –R24) and five dominant LGMD (types D1-D5) have been identified with characterization of mutations in various genes. To date, LGMD D3 (previously known as LGMD1G) has been characterized in only two families with Brazilian or Uruguayan origin. Each was caused by a distinct mutation at codon 378 in the prion-like domain ofHNRNPDL encoding heterogeneous nuclear ribonucleoprotein D like (HNRNPDL), an RNA processing protein. Our study characterized eight patients suffering from LGMD D3 in a Chinese family spanning three generations. Muscle biopsy specimens from two patients showed a myopathy with rimmed vacuoles. Sequencing analysis revealed a heterozygous c.1132G  >  A (p.D378N) mutation inHNRNPDL that co-segregated with disease phenotype in the family. The same mutation has been identified previously in the Brazilian family with LGMD D3. However, most patients in the current family showed distal as well as proximal limb weakness rather than weakness of toe and finger flexor muscles that were typical features in the other two LGMD D3 families reported previously. The present study indicates that the same mutation in HNRNPDL results in various phenotypes of LGMD D3. That all mutations in three unrelated families with different ethn...
Source: Journal of Neurology - Category: Neurology Source Type: research

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Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reserve. A total of 21 females with myotonic dystrophy type 1 (MD1), 25 females with myotonic dystrophy type 2 (MD2), 12 females with facioscapulohumeral muscular dystrophy (FSHD), 12 female carriers of Duchenne muscular dystrophy mutations (cDMD) and 86 age-matched healthy controls of reproductive age (range 18 – 44 years) were included in this case control study. An enz...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Laminin- α2-related congenital muscular dystrophy (LAMA2-CMD) is a devastating genetic disease caused by mutations in the LAMA2 gene. These mutations result in progressive muscle wasting and inflammation leadin...
Source: Skeletal Muscle - Category: Research Authors: Tags: Research Source Type: research
Duchenne muscular dystrophy (DMD) is a devastating and fatal disease affecting ~1 in 3500 boys with dystrophin gene mutations [1,2]. Dystrophin plays important roles in sarcolemma stability and cell signaling in skeletal, smooth, and cardiac muscles [1,2]. DMD patients often die at a young age from dilated cardiomyopathy (DCM) or respiratory dysfunction. The use of ventilators has reduced respiratory failure in DMD patients and DCM associated heart failure (HF) is now a major cause of DMD patient death [1,2].
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Muscular dystrophies are debilitating disorders that result in progressive weakness and degeneration of skeletal muscle. Although the genetic mutations and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative therapies have been developed to date. The advent of genome editing technology provides new opportunities to correct the underlying mutations responsible for many monogenic neuromuscular diseases. For example, Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene, has been successfully corrected in mice, dogs, and human cells through CRISPR/Cas9 editing. ...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Abstract Professor Andrew John Lees, from the National Hospital for Neurology and Neurosurgery, a neurological hospital in Queen Square, London, UK, has contributed in a stupendous way to the development of the field of movement disorders in Brazil, with a constant and intense participation in numerous congresses and scientific meetings of this specialty since 1983.Resumo O professor Andrew Lees, do National Hospital for Neurology and Neurosurgery, Queen Square, Londres, Reino Unido, tem contribu ído de maneira estupenda para o desenvolvimento da área dos distúrbios do movimento no Brasil, com uma part...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Publication date: August 2020Source: Pharmacological Research, Volume 158Author(s): Brigida Boccanegra, Ingrid E.C. Verhaart, Ornella Cappellari, Elizabeth Vroom, Annamaria De Luca
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
AbstractCardiomyopathy is the leading cause of death in Duchenne muscular dystrophy (DMD). Elevated troponin levels are observed in DMD and may vary with disease progression. We studied troponin levels in DMD related to cardiac fibrosis and native T1 measures. This is a prospective, cross-sectional, observational study of 30 DMD subjects measuring native T1 levels and late gadolinium enhancement (LGE) on cardiac MR imaging (CMR) correlated with temporally associated serum troponin I levels. Non-parametric analyses including Spearman correlations and Kruskal –Wallis test were performed between groups.pvalues resulting...
Source: Mammalian Genome - Category: Genetics & Stem Cells Source Type: research
ObjectiveMuscle inflammation is a feature in myositis and Duchenne muscular dystrophy (DMD ). Autoimmune mechanisms are thought to contribute to muscle weakness in patients with myositis. However, a lack of correlation between the extent of inflammatory cell infiltration and muscle weakness indicates that nonimmune pathologic mechanisms may play a role. The present study focused on 2 microRNA (miRNA ) sets previously identified as being elevated in the muscle of patients with DMD —an “inflammatory” miRNA set that is dampened with glucocorticoids, and a “dystrophin‐targeting” miRNA set that i...
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Original Article Source Type: research
(UT Southwestern Medical Center) A joint program of UT Southwestern Medical Center and Children's Health has been approved as a Certified Duchenne Care Center (CDCC) by Parent Project Muscular Dystrophy (PPMD), the nation's most comprehensive nonprofit organization focused on finding a cure for Duchenne muscular dystrophy.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Varied detection methods have resulted in conflicting reports on the prevalence of cardiac disease in Duchenne and Becker muscular dystrophy carriers (MDC).
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research
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