Article
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Oct 2011
Broccolini A, Gidaro T, Morosetti R, Sancricca C, Mirabella M
Abstract excerpt
The hereditary inclusion-body myopathies encompass several syndromes with autosomal recessive or dominant inheritance. Despite a different clinical presentation they all have a progressive course leading to severe disability and share similar pathologic findings at the muscle biopsy. Quadriceps-sparing autosomal recessive hereditary inclusion-body myopathy (h-IBM) is the commonest form and is tied to mutations of...
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