Association of a novel ACTA1 mutation with a dominant progressive scapuloperoneal myopathy in an extended family

JAMA Neurology

Volumn 72, Issue 6, 2015, Pages 689-698

  Zukosky, Kristen ^a   Meilleur, Katherine ^b   Traynor, Bryan J ^c   Dastgir, Jahannaz ^d   Medne, Livija ^e   Devoto, Marcella ^e,f,g   Collins, James ^h   Rooney, Jachinta ⁱ   Zou, Yaqun ^a   Yang, Michele L ^j   Gibbs, J Raphael ^k   Meier, Markus ^l   Stetefeld, Joerg ^l   Finkel, Richard S ^m   Schessl, Joachim ⁿ   Elman, Lauren ^o   Felice, Kevin ^p   Ferguson, Toby A ^q   Ceyhan Birsoy, Ozge ^r   Beggs, Alan H ^r   Tennekoon, Gihan ^e   Johnson, Janel O ^c   Bönnemann, Carsten G ^a   more..

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

^b NATIONAL INSTITUTE OF NURSING RESEARCH   (United States)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d Department of Medicine   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

ⁱ CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^j CHILDREN S HOSPITAL COLORADO   (United States)

^k Porter Neuroscience Research Center   (United States)

^l UNIVERSITY OF MANITOBA   (Canada)

^m NEMOURS CHILDREN S HOSPITAL   (United States)

ⁿ LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^o UNIVERSITY OF PENNSYLVANIA   (United States)

^p Hospital for Special Care New Britain   (United States)

^q TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^r HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTA1 GENE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ECHOGRAPHY; ELECTRODIAGNOSIS; EXOME; EXTENDED FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOLECULAR INTERACTION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCAPULOPERONEAL MYOPATHY; SEQUENCE ANALYSIS; TENDON CONTRACTURE; TENDON REFLEX; ADULT; CHILD; DISEASE COURSE; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENETICS; NEMALINE MYOPATHY; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE;

ACTIN;

ACTINS; ADULT; AGE OF ONSET; CHILD; DISEASE PROGRESSION; EXOME; GENETIC LINKAGE; HUMANS; MALE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION, MISSENSE; MYOPATHIES, NEMALINE; PEDIGREE; PHENOTYPE;

EID: 84931031535     PISSN: 21686149     EISSN: 21686157     Source Type: Journal    
DOI: 10.1001/jamaneurol.2015.37     Document Type: Article

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