See Cannon (doi: ) for a scientific commentary on this article. Dominant gain-of-function mutations in SCN4A , which encodes the α-subunit of the voltage-gated sodium channel, are a common cause of myotonia and periodic paralysis. Zaharieva et al. now report recessive loss-of-function SCN4A mutations in 11 patents with congenital myopathy. The mutations cause fully non-functional channels or result in reduced channel activity.

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Background The rapidly expanding era of “omics” research is highly dependent on the availability of quality‐proven biological material, especially for rare conditions such as pediatric malignancies. Professional biobanks provide such material, focusing on standardized collection and handling procedures, distinctive quality measurements, traceability of storage conditions, and accessibility. For pediatric malignancies, traditional tumor biobanking is challenging due to the rareness and limited amount of tissue and blood samples. The higher molecular heterogeneity, lower mutation rates, and unique genomic landscapes, however, renders biobanking of this tissue even more crucial. Aim The aim of this study was to test and establish methods for a prospective and centralized biobank for infants, children, and adolescents up to 18 years of age diagnosed with cancer in Norway. Methods Obtain judicial and ethical approvals and administration through a consortium, steering committee, and advisory board. Develop pipelines including SOPs for all aspects in the biobank process, including collection, processing and storing of samples and data, as well of quality controlling, safeguarding, distributing, and transport. Results The childhood cancer biobanking started at Oslo University Hospital in March 2017 and was from 2019 run as a national Norwegian Childhood Cancer Biobank. Informed consent and biological samples are collected regionally and stored centrally. Approximately 12 000 samples from 510 patients and have been included by January 1, 2021, representing a 96% consent and participation rate among our newly diagnosed patients. Conclusion A well‐functioning nationwide collection and centralized biobank with standardized procedures and national storage for pediatric malignancies has been established with a high acceptance among families.

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Background: Hoffmann's syndrome is a rare form of hypothyroid myopathy. Only a few cases of fasciotomy in this setting have previously been reported. Case presentation: A 41-year-old Caucasian man under treatment for hypothyroidism presented with acute-onset severe pain in his forearm for no obvious reason and was admitted to our emergency room. He eventually developed compartment syndrome which necessitated surgical decompression. Soon after surgery he complained of similar symptoms in his calves. By the time his hypothyroid status was confirmed, conservative treatment and orally administered levothyroxine gradually made the pain from his calves disappear, without further surgical treatment. Conclusion: Hoffmann's syndrome may precipitate a compartment syndrome in the absence of trauma.