Abstract | BACKGROUND: CASE PRESENTATION: Here we present a male patient with an unusual phenotypic variant of early-onset and predominant involvement of neck muscles with muscle biopsy indicating myopathy and sarcoplasmic storage material. Cardiomyopathic involvements could not be observed. Sequencing of MYH7 gene revealed a stop-loss mutation on the 3-prime end of the rod region, which causes the elongation of the mature protein. CONCLUSIONS: The elongated protein likely disrupts the functions of the sarcomere by multiple functional abnormalities. This elongation could also affect the thick filament degradation leading to protein deposition and accumulation in the sarcomere, resulting in the severe myopathy of certain axial muscles. The phenotypic expression of the detected novel MYH7 genotype could strengthen and further expand our knowledge about mutations affecting the structure of MyHCI by termination signal loss in the MYH7 gene.
|
Authors | Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 18
Issue 1
Pg. 105
(09 19 2017)
ISSN: 1471-2350 [Electronic] England |
PMID | 28927399
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- MYH7 protein, human
- Ryanodine Receptor Calcium Release Channel
- Cardiac Myosins
- Myosin Heavy Chains
|
Topics |
- Cardiac Myosins
(genetics)
- Distal Myopathies
(diagnostic imaging, genetics)
- Genetic Predisposition to Disease
- Genetic Variation
- Humans
- Male
- Middle Aged
- Muscle, Skeletal
(pathology)
- Muscular Diseases
(congenital, diagnostic imaging, genetics)
- Mutation
- Myopathies, Structural, Congenital
(diagnostic imaging, genetics)
- Myosin Heavy Chains
(genetics)
- Ophthalmoplegia
(diagnostic imaging, genetics)
- Phenotype
- Ryanodine Receptor Calcium Release Channel
(deficiency, genetics)
|