Clinical Approach to the Diagnosis of Congenital Myopathies

Seminars in Pediatric Neurology

Volumn 18, Issue 4, 2011, Pages 216-220

  North, Kathryn N ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ACTIN; BETA TROPOMYOSIN; CONNECTIN; CREATINE KINASE; DYNAMIN II; LAMININ; LAMININ A; LAMININ C; MUSCLE PROTEIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 7; MYOTUBULARIN; NEBULIN; RYANODINE RECEPTOR 1; TROPOMYOSIN; UNCLASSIFIED DRUG;

ACTA1 GENE; ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONGENITAL HYPOMYELINATION NEUROPATHY; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DNM2 GENE; ELECTROMYOGRAPHY; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANTILE HYPOTONIA; MEDICAL HISTORY; METABOLIC MYOPATHY; MICROSCOPY; MTM1 GENE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYASTHENIA; MYH7 GENE; MYOPATHY; MYOTONIC DYSTROPHY; NEB GENE; NEUROMUSCULAR DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRADER WILLI SYNDROME; RYR1 GENE; SEPN1 GENE; SPINAL MUSCULAR ATROPHY; TPM3 GENE;

BIOPSY; CHILD; CHILD, PRESCHOOL; GENETIC TESTING; HUMANS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; MYOPATHIES, NEMALINE; MYOPATHIES, STRUCTURAL, CONGENITAL;

EID: 83455263579     PISSN: 10719091     EISSN: 15580776     Source Type: Journal    
DOI: 10.1016/j.spen.2011.10.002     Document Type: Article

References (14)

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