The spectrum of mutations in COL6A1, COL6A2 and COL6A3, the encoding genes of collagen VI, promotes a wide phenotypic presentation, which includes Ullrich congenital muscular dystrophy (UCMD) – with a more severe presentation – and Bethlem myopathy – the least severe phenotype. We describe a case of a patient with proximal muscle weakness and distal contractures – the first Portuguese case of Bethlem myopathy to be described, to our knowledge. Male, 49 years old, with negative family history of neuromuscular disorders, but with parental consanguinity (third degree cousins).

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