Limb Girdle Muscular Dystrophy
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b
... Limb girdle muscular dystrophy (LGMD) describes a range of progressive muscle wasting diseases, which begin with the arms and pelvic girdle and are subclassified based on the underlying ...
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Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report
... Limb-girdle muscular dystrophy may be transmit- ted in an autosomal recessive manner or less commonly in an autosomal dominant manner ...
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A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
... (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological ...spine muscular dystrophy 1 ( SEPN1 ...
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Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I
... Background: Limb girdle muscular dystrophies (LGMD) are inclusive of 7 autosomal dominant and 14 autosomal recessive disorders featuring progressive muscle weakness and ...of limb ...
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Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy
... Objectives Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic ...duchenne muscular dystrophy ...from muscular dystrophy patients including ...
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The role of cell transplantation in modifying the course of limb girdle muscular dystrophy: a longitudinal 5-year study
... Abstract: Limb girdle muscular dystrophy (LGMD), a group of progressive degenerative disorders, causes functional limitation affecting the quality of ...
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A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
... type 2I: two Chinese families and a review in Asian patients. Int J Neurosci 2018;128:199–207. 5. Mathews KD, Stephan CM, Laubenthal K, et al. Myoglobinuria and muscle pain are common in patients with ...
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Attenuated Ca2+ release in a mouse model of limb girdle muscular dystrophy 2A
... cause limb girdle muscular dystrophy type 2A (LGMD2A), a progressive muscle wasting ...advanced muscular dystrophy, which prevented us from establishing whether impaired Ca 2+ ...
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A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies
... the muscular dystrophies referred to as the dystroglycanopathies (8, ...to limb muscle weakness during the teen years that worsens over time (10, ...that limb-girdle muscular ...
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Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F
... recessive limb girdle muscular dystrophy (AR-LGMD) types 2D, 2E, 2C, and 2F are caused by primary mutations in α -, β -, γ -, and δ -SG genes, ...
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Satellite cell senescence underlies myopathy in a mouse model of limb girdle muscular dystrophy 2H
... Tripartite motif-containing 32 (TRIM32) is a member of the tri- partite motif (TRIM) family of proteins (1), which share the com- mon features of a RING finger, a B-box, and a coiled-coil region. TRIM32 is an E3 ...
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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients
... LGMD: Limb-girdle muscular dystrophy; LOVD: Leiden open variation database; MLPA: Multiplex ligation-dependent probe amplification; NGS: Next-generation sequencing; OMIM: Online Mendelian ...
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Effect of cellular therapy in a case of limb girdle muscular dystrophy
... Limb Girdle Muscular Dystrophy (LGMD) is a group of heterogeneous autosomal hereditary neuromuscular disorders resulting in progressive muscular weakness, predominantly in the proximal ...
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Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report
... Limb girdle muscular dystrophy type 2B is a rare subtype of muscular dystrophy, the predominant feature of which is muscle ...of muscular dystrophy and inflammatory ...
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The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients
... Background: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle ...
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Cardioembolic stroke related to limb girdle muscular dystrophy 1B
... Limb-girdle muscular dystrophy 1B (LGMD1B) is an autosomal dominant muscular dystrophy caused by a lamin A/C gene (LMNA) mutation, and is characterized by slowly progressive ...
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Functional protein networks unifying limb girdle muscular dystrophy
... Calpain 3 (CAPN3) is a muscle specific Calpain family member. When mutated it causes Limb-Girdle Muscular Dystrophy (LGMD) 2A (MIM#253600, the most common form of LGMD in many populations) ...
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Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity
... and muscular dystrophies, although there are rare exceptions to this (for example, centronuclear muscular dystrophy caused by impaired cohesion of the centrosome) ...
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Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F
... studied limb muscles contain comparable mixture of fiber types, mostly fast type IIb ...other limb muscles ...of limb muscles and other factors contributing to distinguished muscle type involvement ...
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LIMB-GIRDLE MUSCULAR DYSTROPHY: ITS LARGER SIGNIFICANCE
... Primary muscle disease is the most fre- quent cause of progressive muscular weak-. ness in children with neuromuscular disor-[r] ...
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