Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations

Neuromuscular Disorders

Volumn 24, Issue 4, 2014, Pages 321-324

  Hafner, Patricia ^a,b   Bonati, Ulrike ^a,b   Fischmann, Arne ^b   Schneider, Jacques ^a   Frank, Stephan ^b   Morris Rosendahl, Deborah J ^c   Dumea, Anamaria ^a   Heinimann, Karl ^a   Fischer, Dirk ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Alpha dystroglycanopathies; CMP; POMT1; POMT2; Quantitativ muscle MRI

Indexed keywords

CREATINE KINASE; FKRP PROTEIN, HUMAN; FKTN PROTEIN, HUMAN; MANNOSYLTRANSFERASE; MEMBRANE PROTEIN; PROTEIN; PROTEIN O-MANNOSYLTRANSFERASE;

ARTICLE; ASTIGMATISM; CASE REPORT; CHILD; COGNITIVE DEVELOPMENT; DEMYELINATION; DEVELOPMENTAL DISORDER; FEMALE; FKRP GENE; FKTN GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GLAUCOMA; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTELLIGENCE QUOTIENT; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PLAGIOCEPHALY; POMT1 GENE; POMT2 GENE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RETINA DEGENERATION; SCHOOL CHILD; SIBLING; SOCIAL EVOLUTION; SPEECH DELAY; SPEECH DEVELOPMENT; SRI LANKA; SUCKING; SYRIAN ARAB REPUBLIC; VASTUS LATERALIS MUSCLE; VERBAL COMMUNICATION; VISUAL ACUITY; VISUAL MEMORY; WHITE MATTER; GENETICS; LEG; MUSCULAR DYSTROPHY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SKELETAL MUSCLE;

CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LOWER EXTREMITY; MAGNETIC RESONANCE IMAGING; MALE; MANNOSYLTRANSFERASES; MEMBRANE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PROTEINS; SIBLINGS;

EID: 84895828052     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.01.009     Document Type: Article

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