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- W2756099952 abstract "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). His symptoms begun in childhood, with mild muscle weakness leading to delayed motor milestones and difficulty in running. There was no cognitive impairment. Symptoms progressed slowly, with a more pronounced worsening at 40 years old. At age 42 examination revealed mild proximal muscle weakness, lumbar hyperlordosis, protuberant abdomen, contractures of fingers flexors muscles and contraction of both Achilles tendons. Gowers manoeuvre was positive and he had a slightly myopathic gait. Laboratory testing revealed elevated creatine kinase values (max 472 UI/L), being otherwise unremarkable. Respiratory and cardiac function (eco and electrocardiogram) did not revealed significant changes. Electromyography identified myopathic features with normal nerve conduction studies. Left deltoid muscle biopsy revealed a dystrophic pattern and negative immunostaining. Limb girdle muscle MRI showed a specific fat infiltration pattern of the anterior thigh muscles: concentric fatty infiltration in vastus lateralis and intermedius, and an anterocentral infiltration in rectus femoris, corresponding to a “central shadow” or a “U-shaped” infiltration. Whole genome sequencing identified the mutation c.1970-9G > A in COL6A2 gene, in homozygosity. Both parents were heterozygote to the same mutation. We present a case representative of Bethlem Myopathy, a rare pathology with scarce clinical and pathological characterization, associated to a homozygote mutation in COL6A2 gene." @default.
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- W2756099952 date "2017-10-01" @default.
- W2756099952 modified "2023-10-17" @default.
- W2756099952 title "Bethlem myopathy, the other side of collagen VI myopathies" @default.
- W2756099952 doi "https://doi.org/10.1016/j.nmd.2017.06.053" @default.
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