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However, several congenital and adult\u2010onset inherited myopathies also present with joint hypermobility in the context of often only mild\u2010to\u2010moderate muscle weakness and should, therefore, be included in the differential diagnosis of joint hypermobility. In fact, on the molecular level disorders within both groups represent different ends of the same spectrum of inherited extracellular matrix (ECM) disorders. In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers\u2013Danlos syndrome, Marfan syndrome and Loeys\u2010Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and <jats:italic>FKBP14<\/jats:italic> related kyphoscoliotic type of Ehlers\u2013Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including  <jats:italic>RYR1<\/jats:italic>\u2010 and <jats:italic>SEPN1<\/jats:italic>\u2010related myopathy. The aim of this review is to assist clinical geneticists and other clinicians with recognition of these disorders. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31433","type":"journal-article","created":{"date-parts":[[2015,3,27]],"date-time":"2015-03-27T22:37:36Z","timestamp":1427495856000},"page":"23-42","source":"Crossref","is-referenced-by-count":29,"title":["The neuromuscular differential diagnosis of joint 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