ArticleNeuromuscular disorders : NMD2012
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.
Article in Neuromuscular disorders : NMD, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Emerging Roles of Dystroglycan in Cardiac Remodeling, Fibrosis, and Heart Failure.International journal of molecular sciences · 2026Review
- Biosynthesis and Regulation of Laminin-Binding O-Mannosyl Glycans Related to Muscular Dystrophy.Advances in experimental medicine and biology · 2026Review
- The triple code model for advancing research in rare and undiagnosed diseases beyond the base pairs.Epigenomics · 2025Article
- Matriglycan maintains t-tubule structural integrity in cardiac muscle.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Hypoxia and Hypoxia-Inducible Factor Signaling in Muscular Dystrophies: Cause and Consequences.International journal of molecular sciences · 2021Review
- Diagnosis of Cardiac Abnormalities in Muscular Dystrophies.Medicina (Kaunas, Lithuania) · 2021Review
- Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.Muscle & nerve · 2020Article
- The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.Disease models & mechanisms · 2018Review
- Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.Skeletal muscle · 2018Article
- B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.Genome medicine · 2017Article
- Article
- Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves.Korean circulation journal · 2016Review
- Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.PloS one · 2016Article
- ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.BMC neurology · 2015Article
- Genetic defects in dolichol metabolism.Journal of inherited metabolic disease · 2015Review
- Congenital muscular dystrophies and congenital myopathies.Continuum (Minneapolis, Minn.) · 2013Review
- Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.Expert opinion on orphan drugsArticle
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 2 countries.
Funding
Abstract
The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1 month and 20 years. The age at last follow up of the surviving 102 ranged between 1 year and 68 years (median: 9.3 years). Cardiac involvement was found in 7 of the 115 (6%), 5 with dilated cardiomyopathy, 1 cardiac conductions defects and 1 mitral regurgitation. Respiratory function was impaired in 14 (12%). Ten of the 14 required non invasive nocturnal respiratory support, while the other four required invasive ventilation. Cardiac or respiratory involvement was found in patients with mutations in FKRP, POMT1, POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.