Congenital myopathies: An update

Current Neurology and Neuroscience Reports

Volumn 12, Issue 2, 2012, Pages 165-174

  Nance, Jessica R ^a   Dowling, James J ^b   Gibbs, Elizabeth M ^b   Bönnemann, Carsten G ^c  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

ACTA1; BIN1; Central core disease; Centronuclear myopathy; Cofilin 2; Congenital myopathy; Core myopathy; DNM2; KTBDB13; MTM1; Multiminicore disease; NEB; Nemaline rod myopathy; RYR1; SEPN1; TMP2; TNNT1; TPM3

Indexed keywords

ALPHA ACTIN; AMPHIPHYSIN; DYNAMIN II; NEBULIN; PYRIDOSTIGMINE; RYANODINE RECEPTOR 1; SELENOPROTEIN; SELENOPROTEIN N1; SKELETAL MUSCLE ALPHA ACTIN; TYROSINE; UNCLASSIFIED DRUG;

ARTICLE; BIN1 GENE; BTB KELCH FAMILY MEMBER 13 GENE; CENTRAL CORE DISEASE; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; COFILIN 2 GENE; DMN2 GENE; EXCITATION CONTRACTION COUPLING; EXPERIMENTAL MODEL; GENE; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; KNOCKOUT MOUSE; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MTM1 GENE; MULTIMINICORE DISEASE; NEBULIN GENE; NEMALINE MYOPATHY; NONHUMAN; PATHOPHYSIOLOGY; RYR1 GENE; SELENOPROTEIN N1 GENE; SKELETAL MUSCLE ALPHA ACTIN 1 GENE; THIN FILAMENT; TROPOMYOSIN 3 GENE; ZEBRA FISH;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; DISEASE MODELS, ANIMAL; DYNAMIN II; HUMANS; MICE; MUSCLE, SKELETAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NUCLEAR PROTEINS; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TUMOR SUPPRESSOR PROTEINS;

EID: 84861223138     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-012-0255-x     Document Type: Article

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