Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

Brain

Volumn 139, Issue 8, 2016, Pages 2143-2153

  O'Connor, Emily ^a   Töpf, Ana ^a   Müller, Juliane S ^a   Cox, Daniel ^a   Evangelista, Teresinha ^a   Colomer, Jaume ^b   Abicht, Angela ^c   Senderek, Jan ^c   Hasselmann, Oswald ^d   Yaramis, Ahmet ^e   Laval, Steven H ^a   Lochmüller, Hanns ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d Kantonsspital St Gallen   (Switzerland)

^e Diyarbaklr Memorial Hospital   (Turkey)

Author keywords

congenital myasthenic syndrome; MYO9A; neuromuscular junction; unconventional myosin; whole exome sequencing

Indexed keywords

AMIFAMPRIDINE; CHOLINERGIC RECEPTOR; FLUOXETINE; MORPHOLINO OLIGONUCLEOTIDE; MYOSIN; PYRIDOSTIGMINE; SYNAPTOPHYSIN; MYO9A PROTEIN, HUMAN; MYOSIN IXA PROTEIN, MOUSE; ZEBRAFISH PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CASE REPORT; CHILD; CHORION; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ELECTROMYOGRAM; EMBRYO; EXOME; FEMALE; FETUS; GENE; GENE SILENCING; GENOME ANALYSIS; HUMAN; INFANT; MISSENSE MUTATION; MOTONEURON; MOTOR NERVE; MOUSE; MUTATIONAL ANALYSIS; MYO9A GENE; NERVE FIBER GROWTH; NERVE SPROUTING; NEUROMUSCULAR JUNCTION; NONHUMAN; ORTHOLOGY; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY DISTRESS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; STIMULUS RESPONSE; SWIMMING; TACTILE STIMULATION; ZEBRA FISH; ANIMAL; CELL CULTURE; GENETICS; MALE; METABOLISM; PATHOPHYSIOLOGY;

ANIMALS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EXOME; FEMALE; HUMANS; MALE; MICE; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; MYOSINS; NEUROMUSCULAR JUNCTION; PEDIGREE; ZEBRAFISH PROTEINS;

EID: 84982931972     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aww130     Document Type: Article

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