ArticleBiomedical reports2017
Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report.
Article in Biomedical reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 23 citations in OpenAlex.
- Case report: Novel frameshift mutation inFrontiers in genetics · 2023Article
- MR imaging of inherited myopathies: a review and proposal of imaging algorithms.European radiology · 2021Review
- Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.Orphanet journal of rare diseases · 2021Article
- Identification of Novel Biomarkers for Pre-diabetic Diagnosis Using a Combinational Approach.Frontiers in endocrinology · 2021Article
- Early skeletal muscle pathology and disease progress in the dyScientific reports · 2019Article
- Immunobiology of Inherited Muscular Dystrophies.Comprehensive Physiology · 2018Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the
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Registered trials
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