LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

Clinical Genetics

Volumn 88, Issue 6, 2015, Pages 558-564

  Chardon, Jodi Warman ^a,c   Smith, A C ^a   Woulfe, J ^b,c   Pena, E ^b   Rakhra, K ^b,c   Dennie, C ^b,c,d   Beaulieu, C ^a   Huang, Lijia ^a   Schwartzentruber, J ^e   Hawkins, C ^f   Harms, M B ^g   Dojeiji, S ^h   Zhang, M ^c   Majewski, J ^e   Bulman, D E ^a   Boycott, K M ^a   Dyment, D A ^a   Boycott, K ⁱ   Friedman, J ^j   Michaud, J ^k   Bernier, F ^l   Brudno, M ^m   Fernandez, B ⁿ   Knoppers, B ^e   Samuels, M ^k   Scherer, S ^m   more..

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^e MCGILL UNIVERSITY   (Canada)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Rehabilitation Centre   (Canada)

ⁱ UNIVERSITY OF OTTAWA   (Canada)

^j UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^k UNIVERSITÉ DE MONTRÉAL   (Canada)

^l UNIVERSITY OF CALGARY   (Canada)

^m UNIVERSITY OF TORONTO   (Canada)

ⁿ MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

more..

Author keywords

Cardiomyopathy; Exome sequencing; Limb girdle muscular dystrophy; LIMS2

Indexed keywords

CREATINE KINASE; LIM PROTEIN; LIMS2 PROTEIN, HUMAN; MEMBRANE PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; ARTICLE; ASYMPTOMATIC DISEASE; CARDIOMYOPATHY; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; HEART ARRHYTHMIA; HEART LEFT VENTRICLE; HETEROZYGOTE; HUMAN; HYPERTROPHY; HYPOKINESIA; IMMUNOHISTOCHEMISTRY; LIMS2 GENE; MACROGLOSSIA; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOGENICITY; PRIORITY JOURNAL; QUADRIPLEGIA; SIBLING; SKELETAL MUSCLE; TONGUE DISEASE; ABNORMALITIES; DNA SEQUENCE; FEMALE; GENETIC PREDISPOSITION; GENETICS; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SEVERITY OF ILLNESS INDEX; TONGUE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; BASE SEQUENCE; CARDIOMYOPATHIES; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LIM DOMAIN PROTEINS; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; SIBLINGS; TONGUE;

EID: 84946402614     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12561     Document Type: Article

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