Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis

Muscle and Nerve

Volumn 47, Issue 5, 2013, Pages 740-747

  Nilsson, Mats I ^a   Laureano, Marissa L ^a   Saeed, Munim ^a   Tarnopolsky, Mark A ^a  

^a MCMASTER UNIVERSITY   (Canada)

Author keywords

Atrophy; DYSF; Dysferlinopathy; Limb girdle muscular dystrophy; Skeletal muscle

Indexed keywords

DYSFERLIN; GENOMIC DNA; MESSENGER RNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CYTOPLASM; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HOMOGENATE; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; LABORATORY DIAGNOSIS; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B; MALE; MIYOSHI MYOPATHY; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; PREDICTOR VARIABLE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; RNA ISOLATION; WESTERN BLOTTING;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE;

EID: 84876783855     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23666     Document Type: Article

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