Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 3, 2014, Pages 331-338

  Pfeffer, Gerald ^a,b   Barresi, Rita ^c   Wilson, Ian J ^a   Hardy, Steven A ^a   Griffin, Helen ^a   Hudson, Judith ^a   Elliott, Hannah R ^a   Ramesh, Aravind V ^a   Radunovic, Aleksandar ^d   Winer, John B ^e   Vaidya, Sujit ^d   Raman, Ashok ^f   Busby, Mark ^g   Farrugia, Maria E ^h   Ming, Alec ^f   Everett, Chris ^d   Emsley, Hedley C A ⁱ   Horvath, Rita ^a,b   Straub, Volker ^a   Bushby, Kate ^a   Lochmüller, Hanns ^a   Chinnery, Patrick F ^a,b   Sarkozy, Anna ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c NCST Diagnostic and Advisory Service for Rare Neuromuscular Diseases   (United Kingdom)

^d ROYAL LONDON HOSPITAL   (United Kingdom)

^e QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^f HULL ROYAL INFIRMARY   (United Kingdom)

^g ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^h INSTITUTE OF NEUROLOGICAL SCIENCES   (United Kingdom)

ⁱ ROYAL PRESTON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; CREATINE KINASE; FIBRONECTIN; FIBRONECTIN 3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HISTOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MIDDLE AGED; MOLECULAR PATHOLOGY; MUSCLE DISEASE; MYOFIBRILLAR MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SINGLE NUCLEOTIDE POLYMORPHISM; TITIN GENE; WILD TYPE;

GENETICS; MUSCULAR DYSTROPHY; MYOPATHY; NEUROPATHOLOGY, MUSCLE; RESPIRATORY MEDICINE;

ADULT; AGED; CONNECTIN; FEMALE; FOUNDER EFFECT; GENETIC DISEASES, INBORN; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RESPIRATORY INSUFFICIENCY;

EID: 84896728430     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-304728     Document Type: Article

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