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Keyphrases
Congenital Myasthenic Syndrome
100%
Myofibrillar Myopathy
82%
Acetylcholine Receptor (AChR)
47%
Myasthenia
45%
Myopathy
37%
Muscular Dystrophy
31%
Z-disc
31%
Neuromuscular Transmission
30%
αB-crystallin
25%
Desmin
24%
Muscle Biopsy
22%
Cardiomyopathy
22%
Duchenne muscular Dystrophy
21%
Clinical Features
18%
Myotilin
18%
Myofibrillar
17%
Myositis
16%
Limb-girdle
16%
Mayo Clinic
16%
Muscle Fiber
15%
Expression Study
15%
Natural History Study
15%
Duchenne
15%
Myasthenia Gravis
14%
Whole Exome Sequencing
14%
Pathogenic Variants
13%
Exome Sequencing
13%
Spontaneous Excitatory Postsynaptic Current (sEPSC)
13%
Disease Genes
12%
Limb-girdle muscular Dystrophy
12%
Muscle Weakness
11%
Fast Channel
11%
Distal Myopathy
11%
Musk
11%
Electron Microscopy
10%
Electrophysiological Study
10%
Genetic Studies
10%
Genetic Testing
10%
Sporadic Late-onset Nemaline Myopathy
10%
Congenital Myopathy
10%
Dok-7 Myasthenia
10%
Rapsyn
10%
Pediatric Patients
10%
Juvenile Dermatomyositis
10%
Pediatric
10%
Tertiary Healthcare
10%
Health Systems
10%
Spinal muscular Atrophy
10%
Genomic Medicine
10%
Idiopathic Inflammatory Myopathies
10%
Biochemistry, Genetics and Molecular Biology
Genetics
50%
Acetylcholine Receptor
49%
Neuromuscular Transmission
36%
Morphology
30%
Crystallin
28%
Desmin
27%
Exome Sequencing
24%
Autosomal Dominant Inheritance
20%
Genetic Screening
19%
Myotilin
17%
Skeletal Muscle
17%
Basal Lamina
16%
Electron Microscopy
13%
Autosomal Recessive Inheritance
13%
Plectin
12%
Exon
12%
Mutant Protein
12%
Ectopic Expression
11%
Molecular Genetics
11%
Magnetic Resonance Imaging
11%
Channel Gating
11%
Acetylcholinesterase
11%
Infancy
11%
Genotype Phenotype Correlation
10%
Synaptobrevin
10%
CRYAB
10%
Missense Mutation
10%
Microelectrode
10%
Choline Acetyltransferase
10%
Dok-7
10%
Mitochondrial Myopathy
10%
Agonist
9%
SMN2
9%
Glycosylation
8%
3,4-Diaminopyridine
7%
Synapsin I
7%
GFPT1
7%
Intellectual Disability
7%
Lamin
7%
Protein Glycosylation
7%
FHL1
7%
BAG3
7%
Fibroblast
7%
Wild Type
7%
Missense
7%
Filamin
7%
Receptor Tyrosine Kinase
7%
Tyrosine Kinase
7%
Cholinergic
6%
Immunoblotting
6%
Medicine and Dentistry
Myopathy
60%
Congenital Myasthenic Syndrome
46%
Diseases
38%
Myositis
21%
Myasthenia
20%
Muscle Biopsy
18%
Weakness
16%
Limb
15%
Cholinergic Receptor
14%
Neuropathy
14%
Dermatomyositis
12%
Muscular Dystrophy
11%
Clinical Trial
11%
Pediatrics
11%
Skeletal Muscle
10%
Muscle Weakness
10%
Exome Sequencing
10%
Juvenile Dermatomyositis
10%
Neurology
10%
Autoimmunity
10%
Medicine
10%
Duchenne Muscular Dystrophy
10%
Rare Disease
10%
Spinal Muscular Atrophy
10%
Pediatrics Patient
9%
Desmin
8%
Mitochondrion
8%
Genetic Screening
8%
Respiratory Failure
8%
Myocardial Disease
7%
Crystallin
7%
Retrospective Study
7%
Neuromuscular Transmission
7%
Magnetic Resonance Imaging
7%
Electron Microscopy
7%
Polymyositis
7%
Nerve Biopsy
7%
Protein Tyrosine Kinase
7%
Neuromuscular Junction Disorder
6%
Sensitivity and Specificity
6%
Genetic Counseling
6%
Limb Girdle Muscular Dystrophy
6%
Neuromuscular Disease
6%
Dystrophy
6%
Acetylcholinesterase
6%
Actinin
6%
Isotopes of Calcium
5%
Cerebellar Ataxia
5%
Compound Muscle Action Potential
5%
3,4-Diaminopyridine
5%
