Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Neurology

Volumn 84, Issue 17, 2015, Pages 1772-1781

  Semplicini, Claudio ^a   Vissing, John ^b   Dahlqvist, Julia R ^b   Stojkovic, Tanya ^c   Bello, Luca ^a   Witting, Nanna ^b   Duno, Morten ^b   Leturcq, France ^d   Bertolin, Cinzia ^a   D'Ambrosio, Paola ^e   Eymard, Bruno ^c   Angelini, Corrado ^f   Politano, Luisa ^c   Laforêt, Pascal ^e   Pegoraro, Elena ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d Rigshospitalet ^*  (France)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

^f IRCCS SAN CAMILLO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CLOPREDNOL; DEFLAZACORT; SARCOGLYCAN; SGCB PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; ASSISTED VENTILATION; BIOCHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL PROTOCOL; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEART FUNCTION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 2E; MALE; MOBILIZATION; MOTOR PERFORMANCE; MUSCLE BIOPSY; MUSCLE FUNCTION; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RECURRENT DISEASE; RESPIRATORY FAILURE; RESPIRATORY FUNCTION; STEROID THERAPY; WESTERN BLOTTING; AGE; CLINICAL TRIAL; CONSANGUINITY; GENETICS; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; MUTATION; PATHOPHYSIOLOGY; PROGNOSIS; SARCOGLYCANOPATHY; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

ADOLESCENT; ADULT; AGE FACTORS; AGED; CHILD; CONSANGUINITY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PROGNOSIS; SARCOGLYCANOPATHIES; SARCOGLYCANS; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84929094421     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001519     Document Type: Article

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