Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture
Journal Article
Overview
publication date
- August 12, 2016
has subject area
- Adenosine Triphosphatases - Cardiac Myosins
- Adenosine Triphosphatases - Myosin Heavy Chains
- Adult
- Aged
- Animals
- Back
- Cell Line, Transformed - COS Cells
- Chlorocebus aethiops
- Cytoskeletal Proteins - Cardiac Myosins
- Cytoskeletal Proteins - Myosin Heavy Chains
- DNA
- Female
- Fibroblasts - COS Cells
- Genetic Diseases, Inborn - Distal Myopathies
- Heterozygote
- Humans
- Joint Diseases - Contracture
- Macromolecular Substances - Cardiac Myosins
- Macromolecular Substances - Myosin Heavy Chains
- Male
- Muscle Proteins - Cardiac Myosins
- Muscle Proteins - Myosin Heavy Chains
- Muscle, Striated - Muscle, Skeletal
- Musculoskeletal Diseases - Contracture
- Musculoskeletal Diseases - Distal Myopathies
- Musculoskeletal System - Muscle, Skeletal
- Mutagenesis - Amino Acid Substitution
- Neck
- Neuromuscular Diseases - Distal Myopathies
- Phenotype
- Polymorphism, Single Nucleotide
- Proline
- Protein Engineering - Amino Acid Substitution
has restriction
- gold
Date in CU Experts
- August 16, 2016 7:39 AM
Full Author List
- Feinstein-Linial M; Buvoli M; Buvoli A; Sadeh M; Dabby R; Straussberg R; Shelef I; Dayan D; Leinwand LA; Birk OS
author count
- 10
citation count
- 8
published in
- BMC Medical Genetics Journal
Other Profiles
International Standard Serial Number (ISSN)
- 1471-2350
Digital Object Identifier (DOI)
Additional Document Info
volume
- 17
number
- ARTN 57