A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Neuromuscular Disorders

Volumn 24, Issue 4, 2014, Pages 312-320

  Wallace, Stephanie E ^a,b   Conta, Jessie H ^b   Winder, Thomas L ^c   Willer, Tobias ^d   Eskuri, Jamie M ^d   Haas, Richard ^e,f,g   Patterson, Kathleen ^b   Campbell, Kevin P ^d   Moore, Steven A ^d   Gospe, Sidney M ^a,b,h  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c Prevention Genetics   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^g RADY CHILDREN'S HOSPITAL   (United States)

^h UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Congenital muscular dystrophy; Dystroglycanopathy; Limb girdle muscular dystrophy; POMT1; Protein O mannosylation; Walker Warburg syndrome

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA DYSTROGLYCAN; ASPARTATE AMINOTRANSFERASE; BETA DYSTROGLYCAN; CAVEOLIN 3; COLLAGEN TYPE 6; COMPLEMENT COMPONENT C5B; CREATINE KINASE; DYSFERLIN; DYSTROPHIN; EMERIN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MANNOSYLTRANSFERASE; MEROSIN; NEURONAL NITRIC OXIDE SYNTHASE; PROTEIN 2 MANNOSYLTRANSFERASE 1; SARCOGLYCAN; SPECTRIN; UNCLASSIFIED DRUG; PROTEIN O-MANNOSYLTRANSFERASE;

ADOLESCENT; ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALLELE; ANTIGEN EXPRESSION; APRAXIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUDIOGRAPHY; BODY HEIGHT; BRAIN MALFORMATION; CASE REPORT; CAUCASIAN; CELL CULTURE; CEREBELLUM VERMIS; CHILD; COMPLEMENT DEPOSITION; CREATINE KINASE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSARTHRIA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROCARDIOGRAPHY; EYE DISEASE; FACE MALFORMATION; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GAIT DISORDER; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GRIP STRENGTH; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERSALIVATION; HYPOPLASIA; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; LYMPHOCYTOSIS; MALE; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCULAR DYSTROPHY; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; POMT1 GENE; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE; RESPIRATORY TRACT INFECTION; RESTRICTIVE LUNG DISEASE; SCOLIOSIS; SPEECH DISORDER; SPEECH THERAPY; WALKER WARBURG SYNDROME; WESTERN BLOTTING; BRAIN; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX; SIBLING; SKELETAL MUSCLE; YOUNG ADULT;

ADOLESCENT; BRAIN; CELLS, CULTURED; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MANNOSYLTRANSFERASES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SIBLINGS; YOUNG ADULT;

EID: 84895809194     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.01.001     Document Type: Article

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