scholarly journals Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration

2010 ◽  
Vol 16 (11) ◽  
pp. 1313-1320 ◽  
Author(s):  
Paolo Grumati ◽  
Luisa Coletto ◽  
Patrizia Sabatelli ◽  
Matilde Cescon ◽  
Alessia Angelin ◽  
...  
Keyword(s):  
Muscular Dystrophies ◽  
Collagen Vi

P.385Automated diagnosis of collagen VI related muscular dystrophies using advanced image analysis and machine learning

2019 ◽  
Vol 29 ◽  
pp. S194
Author(s):  
M. Roldán ◽  
A. Bazaga ◽  
C. Badosa ◽  
J. Porta ◽  
C. Jimenez-Mallebrera
Keyword(s):  
Machine Learning ◽  
Image Analysis ◽  
Muscular Dystrophies ◽  
Collagen Vi

Inherited Muscle Disorders

2021 ◽  
pp. 785-797
Author(s):  
Teerin Liewluck ◽  
Margherita Milone
Keyword(s):  
Extracellular Matrix ◽  
Matrix Proteins ◽  
Muscle Membrane ◽  
Muscular Dystrophies ◽  
Collagen Vi ◽  
Membrane Protein Complex ◽  
Muscle Disorders ◽  
Progressive Degeneration ◽  
Muscular Disorders ◽  
Intracellular Proteins

Inherited muscular disorders can manifest at any age, from prenatal life to adulthood. The broad differential diagnosis includes muscular dystrophies, congenital myopathies, disorders of glycogen and lipid metabolism, channelopathies, and mitochondrial disorders. Muscular dystrophies may present at any age, are inherited, and involve progressive degeneration of muscle, which is often replaced by connective tissue. Muscular dystrophies result from defects in the sarcolemmal proteins of muscle, including dystrophin-associated muscle membrane protein complex, muscle intracellular proteins (eg, nuclear envelope proteins), and extracellular matrix proteins (eg, collagen VI).

EM.I.2 Toward a mitochondrial therapy of collagen VI muscular dystrophies

2009 ◽  
Vol 19 (8-9) ◽  
pp. 598
Author(s):  
P. Bernardi ◽  
P. Bonaldo ◽  
P. Sabatelli ◽  
N.M. Maraldi ◽  
L. Merlini
Keyword(s):  
Muscular Dystrophies ◽  
Collagen Vi

A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion

2020 ◽  
Vol 51 (06) ◽  
pp. 445-449
Author(s):  
Pelin Ozlem Simsek-Kiper ◽  
Sumeyra Oguz ◽  
Fatma Bilge Ergen ◽  
Gulen Eda Utine ◽  
Mehmet Alikasifoglu ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Muscle Weakness ◽  
Ring Chromosome ◽  
Pathogenic Variant ◽  
Chromosome 21 ◽  
Muscular Dystrophies ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Collagen Vi ◽  
Genomic Deletions

AbstractThe genetic etiology of collagen VI related muscular dystrophies is heterogenous. Genomic deletions in one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic variant in the second nondeleted allele have been described in the etiology. We aimed to report the clinical and molecular findings of a 13-year-old boy with ring chromosome 21 who presented to our clinic with easy fatigability, muscle weakness, and waddling gait. Phenotypic delineation along with chromosomal microarray analysis and DNA sequencing were performed. Affymetrix CytoScan Optima array platform and DNA sequencing revealed a 2,202 kb de novo deletion at 21q22.3, including COL6A1 and COL6A2, and a novel heterozygous variant at position c.2875G > A;p.(Glu959Lys) in COL6A2, respectively. Before his admission to our center, the patient was evaluated for hypotonia elsewhere when he was 15 months old. He was diagnosed with ring chromosome 21 on peripheral blood karyotype analysis; however, no further assessment was performed at that time. He had normal growth with mild dysmorphic facial features, distal laxity, gastrocnemius hypertrophy, proximal muscle weakness, increased lordotic posture with mild flexion contractures at the knees, and gait disturbance. Although the phenotype does not fit into classical Ullrich congenital muscular dystrophies, muscle magnetic resonance imaging (MRI) revealed a complementary pattern consistent with collagen VI related myopathies. Genetic testing confirmed the clinical diagnosis as well. This patient yet represents another example of the effect of large genomic deletions leading to recessive disorders through unmasking a pathogenic variant in the second nondeleted allele.

scholarly journals A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies

2019 ◽  
Vol 85 ◽  
pp. 105772
Author(s):  
Adrián Bazaga ◽  
Mònica Roldán ◽  
Carmen Badosa ◽  
Cecilia Jiménez-Mallebrera ◽  
Josep M. Porta
Keyword(s):  
Neural Network ◽  
Convolutional Neural Network ◽  
Muscular Dystrophies ◽  
Collagen Vi ◽  
Automatic Diagnosis
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