A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

Neuromuscular Disorders

Volumn 24, Issue 3, 2014, Pages 241-244

  Pfeffer, Gerald ^a,b   Sambuughin, Nyamkhishig ^c   Olivé, Montse ^d   Tyndel, Felix ^e   Toro, Camilo ^f   Goldfarb, Lev G ^g   Chinnery, Patrick F ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e UNIVERSITY OF TORONTO   (Canada)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Haplotype; Hereditary myopathy with early respiratory failure; Myofibrillar myopathy; Titin; Titinopathy

Indexed keywords

HAPLOTYPE; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; MYOFIBRILLAR MYOPATHY; TITIN; TITINOPATHY;

ALLELES; CONNECTIN; GENETIC DISEASES, INBORN; HAPLOTYPES; HUMANS; MUSCULAR DISEASES; MUTATION; POLYMORPHISM, GENETIC; RESPIRATORY INSUFFICIENCY;

EID: 84894284472     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.12.001     Document Type: Article

References (10)

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