April 2023 in “International journal of molecular sciences” This study found that scalp disorders, such as hair loss and itching, can be associated with collagen VI mutations, thus highlighting the need to investigate scalp involvement in these patients.
January 2005 in “Journal of Cutaneous Pathology” This article discusses various disorders of the hair erector muscle, compiling conditions that involve it passively or actively, but reports no new clinical findings.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” This correspondence reports the case of a young woman with severe lipid storage myopathy due to a rare mutation, who showed significant temporary improvement with plasmapheresis and immunoglobulin treatment before stabilizing with riboflavin and coenzyme Q10 supplementation, challenging the initial assumption of an immune-mediated condition.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
12 citations
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May 2006 in “Journal of Neurology Neurosurgery & Psychiatry” Neuromyotonia and morphoea can occur together in the same body areas.