Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
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.
Uro-Coste
Emmanuelle
E
Department of Pathology, Rangueil University Hospital, TSA 50032, 31059 Toulouse Cedex 9, France. uro-coste.e@chu-toulouse.fr
Arné-Bes
Marie-Christine
MC
Pellissier
Jean-François
JF
Richard
Pascale
P
Levade
Thierry
T
Heitz
François
F
Figarella-Branger
Dominique
D
Delisle
Marie-Bernadette
MB
D019943:Amino Acid Substitution / Q000235:genetics; D024722:Cardiac Myosins / Q000235:genetics*; D009202:Cardiomyopathies / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007930:Leucine / Q000235:genetics; D008875:Middle Aged; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D018995:Myosin Heavy Chains / Q000235:genetics*; D010641:Phenotype; D011392:Proline / Q000235:genetics; D055815:Young Adult
C501641:MYH7 protein, human; D011392:Proline; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D007930:Leucine