Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.23930
Abstract: BACKGROUND Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is occurred by mutations in LAMA2 gene that encodes the laminin α2 chain (merosin). MDC1A is a predominant subtype of congenital muscular dystrophy. Herein, we identified two missense… read more here.
Keywords: merosin; congenital muscular; muscular dystrophy; lama2 gene ... See more keywords
Randomized trial of lung hyperinflation therapy in children with congenital muscular dystrophy
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DOI: 10.1002/ppul.24954
Abstract: Respiratory compromise in congenital muscular dystrophy (CMD) occurs, in part, from chest wall contractures. Passive stretch with hyperinsufflation therapy could reduce related costo‐vertebral joint contractures. We sought to examine the impact of hyperinsufflation use on… read more here.
Keywords: congenital muscular; muscular dystrophy; randomized trial; therapy ... See more keywords
Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy.
Sign Up to like & getrecommendations! Published in 2020 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-0771-8_16
Abstract: Allele-specific gene silencing by antisense oligonucleotide (ASO) or small interference RNA (siRNA) has been used as a therapeutic approach for conditions caused by dominant gain-of-function mutations. We here present an antisense approach using gapmer ASO… read more here.
Keywords: ullrich congenital; congenital muscular; muscular dystrophy; col6a genes ... See more keywords
Botulinum toxin type A relieves sternocleidomastoid muscle fibrosis in congenital muscular torticollis.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of biological macromolecules"
DOI: 10.1016/j.ijbiomac.2018.02.077
Abstract: Congenital muscular torticollis (CMT) is a neck deformity that involves shortening of sternocleidomastoid muscle (SCM) characterized by muscle atrophy and interstitial fibrosis. To investigate wheatear Botulinum toxin type A (BTA) has anti-fibrotic effects in CMT,… read more here.
Keywords: fibrosis; muscle; congenital muscular; muscular torticollis ... See more keywords
Congenital myopathy with a novel SELN missense mutation and the challenge to differentiate it from congenital muscular dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2018.12.024
Abstract: Multiminicore disease is a myopathy that is pathologically characterized by the presence of multiple areas of small, short, and poorly delineated zones of sarcomeric disorganization lacking mitochondria (minicores) that can be observed in both type… read more here.
Keywords: congenital myopathy; multiminicore disease; congenital muscular; muscular dystrophy ... See more keywords
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Sign Up to like & getrecommendations! Published in 2019 at "Mitochondrion"
DOI: 10.1016/j.mito.2019.04.002
Abstract: Congenital Muscular Dystrophies (CMDs) are a heterogeneous group of autosomal recessive disorders presenting at birth with psychomotor delay, cognitive impairment, muscle weakness and hypotonia. Here we described an alteration of mitochondrial inner membrane potential and… read more here.
Keywords: congenital muscular; chkb gene; alteration mitochondrial; mutations chkb ... See more keywords
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.98
Abstract: Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness… read more here.
Keywords: extremes bicd2; atrophy arthrogryposis; congenital muscular; disease ... See more keywords
Bioenergetic Impairment in Congenital Muscular Dystrophy Type 1A and Leigh Syndrome Muscle Cells
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DOI: 10.1038/srep45272
Abstract: Skeletal muscle has high energy requirement and alterations in metabolism are associated with pathological conditions causing muscle wasting and impaired regeneration. Congenital muscular dystrophy type 1A (MDC1A) is a severe muscle disorder caused by mutations… read more here.
Keywords: leigh syndrome; muscle; congenital muscular; dystrophy type ... See more keywords
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
Sign Up to like & getrecommendations! Published in 2021 at "Human molecular genetics"
DOI: 10.1093/hmg/ddab278
Abstract: Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy… read more here.
Keywords: lysosomes pathogenesis; caf zebrafish; pathogenesis merosin; congenital muscular ... See more keywords
Unique finding in congenital muscular torticollis
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DOI: 10.1097/md.0000000000014794
Abstract: Abstract Congenital muscular torticollis (CMT) is a common musculoskeletal abnormality in children, which has been characterized by unclarified pathological changes in the sternocleidomastoid muscle (SCM) and various hypothetical etiologies. There are 2 main hypothetical etiologies… read more here.
Keywords: muscular torticollis; cmt; congenital muscular; unique finding ... See more keywords
External treatment of herbal medicine with tuina in congenital muscular torticollis
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000029035
Abstract: Abstract Background: This study is the protocol to evaluate the clinical evidence for external treatments using herbal medicine (ETHM) with tuina as a congenital muscular treatment (CMT) in pediatrics. Methods: Eleven databases will be searched… read more here.
Keywords: herbal medicine; tuina congenital; congenital muscular; treatment ... See more keywords