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Spontaneous keloid formation in patients with Bethlem myopathy.
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Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.
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Bethlem myopathy in a Portuguese patient - case report.
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COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
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Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
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[Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy) in a Japanese family].
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Identifying miRNAs Associated with the Progression of Keloid through mRNA-miRNA Network Analysis and Validating the Targets of miR-29a-3p in Keloid Fibroblasts.
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Minor collagens of the skin with not so minor functions.
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Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
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Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.
Acta Derm Venereol. 2017 Feb 8;97(2):297-298. doi: 10.2340/00015555-2523.
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Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.
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本文引用的文献
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Collagen VI related muscle disorders.
J Med Genet. 2005 Sep;42(9):673-85. doi: 10.1136/jmg.2002.002311.
2
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.
Am J Med Genet A. 2005 Jan 30;132A(3):296-301. doi: 10.1002/ajmg.a.30443.
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