The expanding phenotype of laminin α2 chain (merosin) abnormalities: Case series and review

Journal of Medical Genetics

Volumn 38, Issue 10, 2001, Pages 649-657

  Jones, K J ^a   Morgan, G ^b   Johnston, H ^b   Tobias, V ^c   Ouvrier, R A ^d   Wilkinson, I ^e   North, K N ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

^b SYDNEY CHILDREN'S HOSPITAL   (Australia)

^c SEALS   (Australia)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e JOHN HUNTER HOSPITAL   (Australia)

Author keywords

Congenital muscular dystrophy; Laminin 2 chain; Merosin; Skeletal muscle

Indexed keywords

CREATINE KINASE; GENE PRODUCT; MEROSIN;

CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; INFANT; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SEIZURE; WHITE MATTER;

AGE OF ONSET; BRAIN; CHILD, PRESCHOOL; CREATINE KINASE; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LAMININ; MALE; MUSCULAR DYSTROPHIES; PHENOTYPE;

EID: 0034795554     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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