Back to Search
Start Over
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
- Publication Year :
- 2007
-
Abstract
- In order to characterize, at the clinical, molecular and imaging level, myopathies due to MYH7 gene mutations, MYH7 gene analysis was conducted by RT-PCR/SSCP/sequencing in two patients diagnosed with myosin storage myopathy and 17 patients diagnosed with scapulo-peroneal myopathy of unknown etiology. MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied. 5533C>T segregation analysis in the mutation carrier families identified 11 additional patients. The clinical spectrum in our cohort of patients included asymptomatic hyperCKemia, scapulo-peroneal myopathy and proximal and distal myopathy with muscle hypertrophy. Muscle MRI identified a unique pattern in the posterior compartment of the thigh, characterized by early involvement of the biceps femoris and semimembranosus, with relative sparing of the semitendinosus. Muscle biopsy revealed hyaline bodies in only half of biopsied patients (2/4). In conclusion, phenotypic and histopathological variability may underlie MYH7 gene mutation and the absence of hyaline bodies in muscle biopsies does not rule out MYH7 gene mutations.
- Subjects :
- Adult
Male
Pathology
medicine.medical_specialty
Myosins
Gene mutation
Arginine
medicine.disease_cause
Muscle hypertrophy
Microscopy, Electron, Transmission
Muscular Diseases
Mutation Carrier
Humans
Medicine
RNA, Messenger
Child
Muscle, Skeletal
Myopathy
Genetics (clinical)
Hyaline
Aged
Family Health
Mutation
Muscle biopsy
Myosin Heavy Chains
medicine.diagnostic_test
Reverse Transcriptase Polymerase Chain Reaction
business.industry
Tryptophan
Infant
Middle Aged
Magnetic Resonance Imaging
Muscular Dystrophy, Emery-Dreifuss
Neurology
Pediatrics, Perinatology and Child Health
Female
MYH7
Neurology (clinical)
medicine.symptom
business
Cardiac Myosins
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....a2f202ff142ce7e39798301d98f6054a