Clinical and molecular Characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

Muscle and Nerve

Volumn 44, Issue 5, 2011, Pages 703-709

  Gavassini, Bruno F ^a   Carboni, Nicola ^b   Nielsen, JØrgen E ^c,d   Danielsen, Else R ^d   Thomsen, Carsten ^d   Svenstrup, Kirsten ^c,d   Bello, Luca ^a   Maioli, Maria Antonietta ^b   Marrosu, Giovanni ^b   Ticca, Anna Filomena ^e   Marco, Mura ^b   Marrosu, Maria Giovanna ^b   Soraru, Gianni ^a   Angelini, Corrado ^a,f   Vissing, John ^c   Pegoraro, Elena ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

^d Rigshospitalet   (Denmark)

^e SAN FRANCESCO HOSPITAL   (Italy)

^f IRCCS SAN CAMILLO HOSPITAL   (Italy)

Author keywords

Brain MRI; Congenital muscular dystrophy; LAMA2; Laminin a2; Limb girdle muscular dystrophy

Indexed keywords

LAMININ ALPHA2;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; EPILEPSY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMMUNOHISTOCHEMISTRY; INTELLIGENCE QUOTIENT; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WHITE MATTER;

ADOLESCENT; AGED; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD; FEMALE; HUMANS; LAMININ; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTAGENESIS, INSERTIONAL; MUTATION; PHENOTYPE; RNA SPLICE SITES; YOUNG ADULT;

EID: 80054852789     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22132     Document Type: Article

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