Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations

Journal of Child Neurology

Volumn 29, Issue 3, 2014, Pages 394-398

  Trovato, Rosanna ^a   Astrea, Guja ^a   Bartalena, Laura ^b   Ghirri, Paolo ^b   Baldacci, Jacopo ^a   Giampietri, Matteo ^b   Battini, Roberta ^a   Santorelli, Filippo M ^a   Fiorillo, Chiara ^a  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

cerebellum; congenital muscular dystrophy; FKRP

Indexed keywords

CEREBELLUM; CONGENITAL MUSCULAR DYSTROPHY; FKRP;

BASE SEQUENCE; CEREBELLUM; CREATINE KINASE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; EARLY DIAGNOSIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MOROCCO; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; ORGAN SIZE; PROTEINS; QUADRICEPS MUSCLE;

EID: 84894506191     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812474951     Document Type: Article

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