Key result
The arginine 1845 tryptophan mutation in the MYH7 gene was identified in two isolated Belgian cases of myosin storage myopathy, indicating a critical role for myosin residue arginine 1845.
Population
Two isolated Belgian cases with myosin storage myopathy
Design
Case_series
Authors
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May guide targeted MYH7 testing in myopathy; leaves open broader genotype-phenotype links pending larger studies.
Case Report (n=2)
Identifies a specific MYH7 mutation in isolated cases of myosin storage myopathy, highlighting the importance of the arginine 1845 residue.
Laing et al. (2005) conducted a case report in Myosin storage myopathy (n=2). Arginine 1845 tryptophan mutation in the MYH7 gene was evaluated on Presence of MYH7 mutation. The arginine 1845 tryptophan mutation in the MYH7 gene was identified in two isolated Belgian cases of myosin storage myopathy, indicating a critical role for myosin residue arginine 1845.
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