Titinopathy in a Canadian family sharing the British founder haplotype

Canadian Journal of Neurological Sciences

Volumn 41, Issue 1, 2014, Pages 90-94

  Pfeffer, Gerald ^a   Joseph, Jeffrey T ^b   Innes, A Micheil ^b   Frizzell, J Bevan ^b   Wilson, Ian J ^a   Brownell, A Keith W ^b   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF CALGARY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; TTN PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BREATHING MUSCLE; BRITISH CITIZEN; CANADIAN; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FOUNDER EFFECT; GENE MUTATION; HAPLOTYPE; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB WEAKNESS; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOFIBRILLAR MYOPATHY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; SEQUENCE ANALYSIS; TITINOPATHY; CANADA; GENETICS; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CANADA; CONNECTIN; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MALE; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84894231668     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100016346     Document Type: Article

References (10)

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