Autosomal recessive Bethlem myopathy

Neurology

Volumn 73, Issue 22, 2009, Pages 1883-1891

  Gualandi, F ^a   Urciuolo, A ^b   Martoni, E ^a   Sabatelli, P ^c   Squarzoni, S ^c   Bovolenta, M ^a   Messina, S ^d   Mercuri, E ^e   Franchella, A ^f   Ferlini, A ^a   Bonaldo, P ^b   Merlini, L ^a,g  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c IGM CNR   (Romania)

^d Policlinico Universitario G Martino   (Romania)

^e Istituto di Neurologia   (Romania)

^f S ANNA HOSPITAL   (Italy)

^g RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; CREATINE KINASE; TETRAMER; GLUTAMINE;

ACHILLES TENDON; ADULT; ALLELE; ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARM MUSCLE; ARTHRODESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASEMENT MEMBRANE; BETHLEM MYOPATHY; BIOCHEMISTRY; CASE REPORT; COLLAGEN DISEASE; COMPUTER ASSISTED TOMOGRAPHY; CREATINE KINASE BLOOD LEVEL; ELBOW; ELECTRON MICROSCOPY; EYE DISEASE; FEMALE; FEMUR NECK FRACTURE; FIBROBLAST; FIBROBLAST CULTURE; FINGER; FORCED EXPIRATORY VOLUME; HIP; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; JOINT CONTRACTURE; JOINT HYPERMOBILITY; KNEE; LEG MUSCLE; MISSENSE MUTATION; MOLECULAR BIOLOGY; MUSCLE CELL; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOFIBROSIS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PELVIC FLOOR MUSCLE TRAINING; PES EQUINOVARUS; PRIORITY JOURNAL; PROSTHESIS; PROTEIN DOMAIN; RELAPSE; RIGIDITY; SHOULDER; SHOULDER GIRDLE; SKIN FIBROBLAST; SPINE DISEASE; TENDON SURGERY; TOE; WALKING DIFFICULTY; CELL CULTURE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; MALE; METABOLISM; METHODOLOGY; MIDDLE AGED; MOLECULAR GENETICS; MUSCLE DISEASE; PATHOLOGY; SKELETAL MUSCLE; STOP CODON; ULTRASTRUCTURE;

ADULT; CELLS, CULTURED; CODON, NONSENSE; COLLAGEN DISEASES; COLLAGEN TYPE VI; FEMALE; FIBROBLASTS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GLUTAMINE; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DISEASES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 73349096286     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181c3fd2a     Document Type: Article

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