Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Brain

Volumn 136, Issue 5, 2013, Pages 1508-1517

  Melià, Maria J ^a,b   Kubota, Akatsuki ^c   Ortolano, Saida ^d   Vílchez, Juan J ^e   Gámez, Josep ^a   Tanji, Kurenai ^c   Bonilla, Eduardo ^c   Palenzuela, Lluís ^a,b   Fernández Cadenas, Israel ^a   Přistoupilová, Anna ^f,g   García Arumí, Elena ^a,b   Andreu, Antoni L ^a,b   Navarro, Carmen ^b,d   Hirano, Michio ^c   Martí, Ramon ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c NewYork Presbyterian Hospital   (United States)

^d UNIVERSITY HOSPITAL COMPLEX OF VIGO   (Spain)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

^f Centro Nacional de Analisis Genomico   (Spain)

^g CHARLES UNIVERSITY   (Czech Republic)

Author keywords

c.2771del mutation; LGMD1F; limb girdle muscular dystrophy 1F; TNPO3; transportin 3

Indexed keywords

ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HISTOLOGY; HUMAN; HUMAN TISSUE; INFANT DISEASE; JUMPING; LIMB GIRDLE MUSCULAR DYSTROPHY; MOTOR DYSFUNCTION; MUSCLE BIOPSY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RUNNING; TRANSPORTIN 3 GENE; VASTUS LATERALIS MUSCLE; WALKING;

EID: 84877252627     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt074     Document Type: Article

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