Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

Neuromuscular Disorders

Volumn 23, Issue 12, 2013, Pages 975-980

  Mitsuhashi, Satomi ^a   Boyden, Steven E ^a   Estrella, Elicia A ^a   Jones, Takako I ^b   Rahimov, Fedik ^a   Yu, Timothy W ^a   Darras, Basil T ^a   Amato, Anthony A ^c   Folkerth, Rebecca D ^d   Jones, Peter L ^b   Kunkel, Louis M ^a   Kang, Peter B ^a,e  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e UNIVERSITY OF FLORIDA   (United States)

Author keywords

DUX4; Facioscapulohumeral muscular dystrophy 2; SMCHD1

Indexed keywords

ADULT; ARTICLE; BICEPS BRACHII MUSCLE; CASE REPORT; EXOME; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; GENE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; INFLAMMATION; LINKAGE ANALYSIS; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; PRIORITY JOURNAL; SMCHD1 GENE;

DUX4; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; SMCHD1;

ADOLESCENT; CHROMOSOMAL PROTEINS, NON-HISTONE; CYTOKINES; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY HEALTH; HUMANS; MALE; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PHENOTYPE;

EID: 84888409948     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.08.009     Document Type: Article

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