Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. - Archive ouverte HAL Access content directly
Journal Articles Neuromuscular Disorders Year : 2009

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.

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Abstract

Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal muscle weakness at age 30. Her daughter presented at birth with a cardiomyopathy without any skeletal muscle involvement. This report underlines the clinical variability of MSM even with a given mutation or in a same family.
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Dates and versions

inserm-00408773 , version 1 (03-08-2009)

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Emmanuelle Uro-Coste, Marie-Christine Arné-Bes, Jean-François Pellissier, Pascale Richard, Thierry Levade, et al.. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.. Neuromuscular Disorders, 2009, 19 (2), pp.163-6. ⟨10.1016/j.nmd.2008.11.012⟩. ⟨inserm-00408773⟩
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