TY  - GEN
AU  - Bánfai,Zsolt
AU  - Hadzsiev,Kinga
AU  - Pál,Endre
AU  - Komlósi,Katalin
AU  - Melegh,Márton
AU  - Balikó,László
AU  - Melegh,Béla
TI  - Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report
SN  - 1471-2350
PY  - 2017///0926
KW  - Cardiac Myosins
KW  - genetics
KW  - Distal Myopathies
KW  - diagnostic imaging
KW  - Genetic Predisposition to Disease
KW  - Genetic Variation
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - pathology
KW  - Muscular Diseases
KW  - congenital
KW  - Mutation
KW  - Myopathies, Structural, Congenital
KW  - Myosin Heavy Chains
KW  - Ophthalmoplegia
KW  - Phenotype
KW  - Ryanodine Receptor Calcium Release Channel
KW  - deficiency
KW  - Muscular Dystrophy, Emery-Dreifuss
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/s12881-017-0463-y
ER  -