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Article

Bethlem myopathy in a Portuguese patient - case report.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Sept 2017

Martins Ana Inês, Maarque Cristin, Pinto-Basto Jorge, Negrão Luis

Abstract excerpt

Mutations of the encoding genes of collagen VI (COL6A1, COL6A2 and COL6A3), are responsible for two classical phenotypes (with a wide range of severity), the Ullrich congenital muscular dystrophy (UCMD) and the Bethlem myopathy (BM). We present a male patient of 49 years old, with symptoms of muscle weakness beginning in childhood and of very slowly progression. At the age of 42, the neurological examination...

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PMID: 29774307
PMCID: PMC5953228

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