Inherited neuromuscular disorders: Pathway to diagnosis

Journal of Paediatrics and Child Health

Volumn 48, Issue 6, 2012, Pages 458-465

  Menezes, Manoj P ^a   North, Kathryn N ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b University of Sydney   (Australia)

Author keywords

child; Duchenne; hypotonia; muscle weakness; muscular dystrophy; neuromuscular disease

Indexed keywords

ALPHA DYSTROGLYCAN; CALPAIN; CAVEOLIN 3; COLLAGEN TYPE 6; CREATINE KINASE; DYSFERLIN; LAMININ ALPHA2; SARCOGLYCAN;

ANTERIOR HORN CELL DISEASE; BECKER MUSCULAR DYSTROPHY; BODY POSTURE; CLINICAL FEATURE; CORRELATION ANALYSIS; CREATINE KINASE BLOOD LEVEL; DARIER DISEASE; DISEASE COURSE; DUCHENNE MUSCULAR DYSTROPHY; ELECTROMYOGRAPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; HEARING LOSS; HEART ARRHYTHMIA; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; INHERITANCE; LIMB GIRDLE MUSCULAR DYSTROPHY; MEDICAL HISTORY; MOTOR NEURON DISEASE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPERTONIA; MUSCLE WEAKNESS; MYOTONIC DYSTROPHY; NERVE CONDUCTION; NEUROMUSCULAR DISEASE; ONSET AGE; OPHTHALMOPLEGIA; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINAL TELANGIECTASIA; REVIEW; SENSORY NEUROPATHY; SPASTICITY; SPINAL MUSCULAR ATROPHY; TRINUCLEOTIDE REPEAT; WEAKNESS;

DIAGNOSIS, DIFFERENTIAL; GENETIC TESTING; HUMANS; MEDICAL HISTORY TAKING; MUSCULAR DYSTROPHIES; NEUROMUSCULAR DISEASES; PHYSICAL EXAMINATION;

EID: 84862762759     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/j.1440-1754.2011.02210.x     Document Type: Review

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