Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene-Reference-Cited by-同舟云学术

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene

Published:2019-07 Issue:7 Volume:29 Page:497-502
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Svahn J.,Laforêt P.,Vial C.,Streichenberger N.,Romero N.,Bouchet-Séraphin C.^ORCID,Bruneel A.,Dupré T.,Seta N.,Menassa R.^ORCID,Michel-Calemard L.,Stojkovic T.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference17 articles.

1. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies;Lefeber;Am J Hum Genet,2009

2. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies;Muntoni;Curr Opin Neurol,2011

3. Dystroglycanopathies: coming into focus;Godfrey;Curr Opin Genet Dev,2011

4. Dystroglycanopathies: about numerous genes involved in glycosylation of one single glycoprotein;Bouchet-Séraphin;J Neuromuscul Dis,2015

5. Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3;Maeda;EMBO J,2000

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3. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation;Molecular Genetics and Metabolism;2021-01

4. CDG biochemical screening: Where do we stand?;Biochimica et Biophysica Acta (BBA) - General Subjects;2020-10

5. Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant);Neuromuscular Disorders;2020-03