Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): The spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Østern, Rune ^a,b   Fagerheim, Toril ^a   Hjellnes, Helene ^a   Nygård, Bjørn ^a   Mellgren, Svein I ^a,b   Nilssen, Øivind ^a,b  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b UNIVERSITY OF TROMSØ   (Norway)

Author keywords

Charcot Marie Tooth; Clinical neurophysiology; Genetic and inherited disorders; Guidelines; Mutation analysis; Neuromuscular diseases

Indexed keywords

EARLY GROWTH RESPONSE FACTOR 2; MITOFUSIN 2; PERIPHERAL MYELIN PROTEIN 22;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; DIAGNOSTIC TEST; DNA SEQUENCE; FAMILY HISTORY; FASCICULATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; POINT MUTATION; POLYNEUROPATHY; TREMOR; X CHROMOSOME DOMINANT INHERITANCE;

ADULT; AGE OF ONSET; AGED; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DEMYELINATING DISEASES; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC TESTING; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MYELIN P0 PROTEIN; MYELIN PROTEINS; NEUROFILAMENT PROTEINS; NORWAY; POINT MUTATION; POLYNEUROPATHIES; SEQUENCE ANALYSIS, DNA;

EID: 84884302150     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-94     Document Type: Article

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