Expanding the phenotype of GMPPB mutations

Brain

Volumn 138, Issue 4, 2015, Pages 836-844

  Cabrera Serrano, MacArena ^a,b   Ghaoui, Roula ^c,d,e   Ravenscroft, Gianina ^a   Johnsen, Russell D ^f   Davis, Mark R ^g   Corbett, Alastair ^h   Reddel, Stephen ^h   Sue, Carolyn M ^e   Liang, Christina ^e   Waddell, Leigh B ^c,d   Kaur, Simranpreet ^c   Lek, Monkol ^c,d,i,j   North, Kathryn N ^c,k,l   MacArthur, Daniel G ^i,j   Lamont, Phillipa J ^m   Clarke, Nigel F ^c,d   Laing, Nigel G ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e ROYAL NORTH SHORE HOSPITAL   (Australia)

^f MURDOCH UNIVERSITY   (Australia)

^g PATHWEST LABORATORY MEDICINE   (Australia)

^h Department of Microbiology and Infectious Diseases   (Australia)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

^j MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^k ROYAL CHILDREN'S HOSPITAL   (Australia)

^l UNIVERSITY OF MELBOURNE   (Australia)

^m ROYAL PERTH HOSPITAL   (Australia)

more..

Author keywords

alpha dystroglycan; dystroglycanopathies; GMPPB; limb girdle muscular dystrophy; rhabdomyolysis

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GUANOSINE DIPHOSPHATE MANNOSE PYROPHOSPHORYLASE B GENE; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INTELLECTUAL IMPAIRMENT; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIDDLE AGED; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NEXT GENERATION SEQUENCING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; SEQUENCE ANALYSIS; YOUNG ADULT; CASE REPORT; CHILD; FATALITY; GENETICS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; PRESCHOOL CHILD;

DYSTROGLYCAN; MANNOSE 1-PHOSPHATE GUANYLYLTRANSFERASE; NUCLEOTIDYLTRANSFERASE;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DYSTROGLYCANS; FATAL OUTCOME; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NUCLEOTIDYLTRANSFERASES; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84929104401     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv013     Document Type: Article

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