Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

Neuromuscular Disorders

Volumn 19, Issue 5, 2009, Pages 352-356

  Puckett, Rebecca L ^a   Moore, Steven A ^b   Winder, Thomas L ^b   Willer, Tobias ^b   Romansky, Stephen G ^c   Covault, Kelly King ^a   Campbell, Kevin P ^b   Abdenur, Jose E ^a  

^a CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c LONG BEACH MEMORIAL MEDICAL CENTER   (United States)

Author keywords

Dystroglycan; Dystroglycanopathy; Fukutin (FKTN); Fukuyama congenital muscular dystrophy (FCMD); Limb girdle muscular dystrophy (LGMD)

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN; LAMININ;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; GENE SEQUENCE; GLYCOSYLATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LABORATORY TEST; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; WESTERN BLOTTING;

AGE OF ONSET; ASIAN AMERICANS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTROGLYCANS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLYCOSYLATION; HUMANS; LAMININ; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; MUTATION, MISSENSE;

EID: 67349114002     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.03.001     Document Type: Article

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