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Volumn 53, Issue 7, 2011, Pages 586-599
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Genetic evaluation of the pediatric patient with hypotonia: Perspective from a hypotonia specialty clinic and review of the literature
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Author keywords
[No Author keywords available]
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Indexed keywords
3,4 DIAMINOPYRIDINE;
ARGININE;
CARNITINE PALMITOYLTRANSFERASE;
CHOLINESTERASE INHIBITOR;
CREATINE;
FLUOXETINE;
METHYL CPG BINDING PROTEIN 2;
PEROXIN 19;
QUINIDINE;
RYANODINE RECEPTOR 1;
BARTH SYNDROME;
BOTULISM;
CANAVAN DISEASE;
CARNITINE PALMITOYLTRANSFERASE DEFICIENCY TYPE 2;
CENTRONUCLEAR MYOPATHY;
CHROMOSOME 17Q;
CHROMOSOME DELETION;
CLINICAL ASSESSMENT;
CLINICAL FEATURE;
CLOSTRIDIUM BOTULINUM;
CONGENITAL MUSCULAR DYSTROPHY TYPE 1A;
CONGENITAL MYASTHENIC SYNDROME;
CREATINE DEFICIENCY DISORDER;
DEVELOPMENTAL DISORDER;
DIET RESTRICTION;
DISORDERS OF PEROXISOMAL FUNCTIONS;
DOWN SYNDROME;
ELECTROMYOGRAPHY;
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY;
FLUORESCENCE IN SITU HYBRIDIZATION;
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY;
GENE;
GENE MUTATION;
GENETIC COUNSELING;
GLYCOGEN STORAGE DISEASE TYPE 2;
HAPPY PUPPET SYNDROME;
HEART ARRHYTHMIA;
HEREDITARY MOTOR SENSORY NEUROPATHY;
HIPPOTHERAPY;
HUMAN;
HYPERSENSITIVITY;
HYPOTENSION;
INFANTILE REFSUM DISEASE;
KUGELBERG WELANDER DISEASE;
LOEYS DIETZ SYNDROME;
MARFAN SYNDROME;
MARINESCO SJOGREN SYNDROME;
MULTIMINICORE DISEASE;
MUSCLE HYPOTONIA;
MUSCULAR DYSTROPHY;
MYOTONIC DYSTROPHY;
NEMALINE MYOPATHY;
NUCLEAR MAGNETIC RESONANCE;
ONSET AGE;
PRADER WILLI SYNDROME;
PRIORITY JOURNAL;
PROTEIN DEFICIENCY;
RETT SYNDROME;
REVIEW;
RIGID SPINE WITH MUSCULAR DYSTROPHY;
SLC6A8 GENE;
SMITH LEMLI OPITZ SYNDROME;
SPEECH THERAPY;
SPINAL MUSCULAR ATROPHY;
SYSTEMATIC REVIEW (TOPIC);
ULLRICH CONGENITAL MUSCULAR DYSTROPHY;
VOCATIONAL REHABILITATION;
WALKER WARBURG SYNDROME;
WERDNIG HOFFMANN DISEASE;
WILLIAMS BEUREN SYNDROME;
ZELLWEGER SYNDROME;
CHILD;
HUMANS;
MUSCLE HYPOTONIA;
PEDIATRICS;
PROGNOSIS;
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EID: 79958257810
PISSN: 00121622
EISSN: 14698749
Source Type: Journal
DOI: 10.1111/j.1469-8749.2011.03918.x Document Type: Review |
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Times cited : (45)
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References (0)
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