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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Myopathy can be a key phenotype of membrin (GOSR2) deficiency

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  1. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

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  2. A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity

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  3. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

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  1. A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

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  2. Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants

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  3. Meningioma-Brain Crosstalk: A Scoping Review

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  4. Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

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T1-weighted, cross-sectional MR images showing shoulder girdle, abdominal, paraspinal, gluteal and thigh muscles almost completely replaced by fat, whereas lower leg muscles are almost unaffected i a patient who is compound heterozygous for pathogenic variants in GOSR2.

Original languageEnglish
JournalHuman Mutation
Volume42
Issue number9
Pages (from-to)1101-1106
Number of pages6
ISSN1059-7794
DOIs
Publication statusPublished - Sep 2021

Bibliographical note

© 2021 Wiley Periodicals LLC.

    Research areas

  • dystroglycans, GOSR2, muscular diseases, myoclonic epilepsies, SNARE proteins

ID: 67848022