Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele

Neuromuscular Disorders

Volumn 19, Issue 7, 2009, Pages 481-484

  Garcia Angarita, Natalia ^a   Kirschner, Janbernd ^b   Heiliger, Mandy ^a   Thirion, Christian ^a   Walter, Maggie C ^a   Schnittfeld Acarlioglu, Susanne ^c   Albrecht, Matthias ^c   Müller, Klaus ^d   Wieczorek, Dagmar ^e   Lochmüller, Hanns ^f   Krause, Sabine ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c KLINIKUM DORTMUND   (Germany)

^d UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

ACTA1; Adjacent mutations; Monoallelic mutations; Nemaline myopathy

Indexed keywords

ALPHA ACTIN; ASPARTIC ACID; GLUTAMIC ACID; HISTIDINE; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; BREECH PRESENTATION; CASE REPORT; CESAREAN SECTION; CHILD DEATH; CODON; FETUS; FETUS MOVEMENT; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HUMAN TISSUE; INFANT; JOINT CONTRACTURE; LABOR PAIN; MALE; MISSENSE MUTATION; MOSAICISM; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ACTINS; ALLELES; AMINO ACID SUBSTITUTION; BONE AND BONES; CODON; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INCLUSION BODIES; INFANT, NEWBORN; JOINTS; MALE; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; PHENOTYPE; PREGNANCY; PREGNANCY COMPLICATIONS; RESPIRATORY INSUFFICIENCY;

EID: 67649643786     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.05.001     Document Type: Article

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