Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H

Human Mutation

Volumn 30, Issue 9, 2009, Pages

  Borg, Kristian ^a   Stucka, Rolf ^b   Locke, Matthew ^c,h   Melin, Eva ^a   Åhlberg, Gabrielle ^a   Klutzny, Ursula ^b   Von Der Hagen, Maja ^d   Huebner, Angela ^d   Lochmüller, Hanns ^e   Wrogemann, Klaus ^f   Thornell, Lars Eric ^g   Blake, Derek J ^c   Schoser, Benedikt ^b  

^a DANDERYD HOSPITAL   (Sweden)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c CARDIFF UNIVERSITY   (United Kingdom)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f UNIVERSITY OF MANITOBA   (Canada)

^g UMEÅ UNIVERSITY   (Sweden)

^h UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

LGMD2H; Muscular dystrophy; Sarcotubular myopathy; TRIM32

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2H; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYNEUROPATHY; POPULATION; PRIORITY JOURNAL; SARCOTUBULAR MYOPATHY; SWEDEN; SYMPTOM; TRIM32 GENE;

ADOLESCENT; ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENE DELETION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; PHENOTYPE; SWEDEN; TRANSCRIPTION FACTORS;

EID: 69549116656     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21063     Document Type: Article

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