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Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Meningioma-Brain Crosstalk: A Scoping Review

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

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

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Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftHuman Mutation
Vol/bind42
Udgave nummer9
Sider (fra-til)1101-1106
Antal sider6
ISSN1059-7794
DOI
StatusUdgivet - sep. 2021

Bibliografisk note

© 2021 Wiley Periodicals LLC.

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