Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

Neurology

Volumn 78, Issue 16, 2012, Pages 1258-1263

  Menezes, M P ^a,b   Waddell, L B ^a,b   Evesson, F J ^a,b   Cooper, S ^a,b   Webster, R ^a   Jones, K ^a,b   Mowat, D ^c   Kiernan, M C ^e   Johnston, H M ^d   Corbett, A ^f   Harbord, M ^g   North, K N ^a,b   Clarke, N F ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c Department of Medical Genetics ^*  (Australia)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY OF NEW SOUTH WALES   (Australia)

^f Department of Microbiology and Infectious Diseases   (Australia)

^g FLINDERS MEDICAL CENTRE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ADOLESCENT; ARTICLE; CHILD; CLINICAL FEATURE; DELAYED DIAGNOSIS; EARLY DIAGNOSIS; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LAMINOPATHY; LIMB GIRDLE MUSCULAR DYSTROPHY; LMNA GENE; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING TEST; WESTERN BLOTTING;

EID: 84860735423     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318250d839     Document Type: Article

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