Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

Annals of Neurology

Volumn 49, Issue 1, 2001, Pages 130-134

  Illa, Isabel ^a,c   Serrano Munuera, Carme ^a   Gallardo, Eduard ^a   Lasa, Adriana ^a   Rojas Garca, Ricardo ^a   Palmer, Jaume ^b   Gallano, Pia ^b   Baiget, Montserrat ^a   Matsuda, Chie ^a   Brown, Robert H ^b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 2P; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ANTERIOR COMPARTMENT SYNDROME; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCLES; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PHENOTYPE;

EID: 0035109410     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0     Document Type: Article

References (20)

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13. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
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