Increasing Role of Titin Mutations in Neuromuscular Disorders

Journal of Neuromuscular Diseases

Volumn 3, Issue 3, 2016, Pages 293-308

  Savarese, Marco ^a   Sarparanta, Jaakko ^a,b   Vihola, Anna ^d   Udd, Bjarne ^a,b,c   Hackman, Peter ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^d VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Childhood juvenile onset Emery Dreifuss like phenotype without cardiomyopathy; Congenital centronuclear myopathy (CNM); Early onset myopathy with fatal cardiomyopathy (EOMFC); Hereditary myopathy with early respiratory failure (HMERF); Late onset autosomal dominant tibial muscular dystrophy (TMD); Limb girdle muscular dystrophy (LGMD); Multi minicore disease with heart disease (MmDHD); neuromuscular disorders; titin; TTN

Indexed keywords

CONNECTIN; ISOPROTEIN; RYANODINE RECEPTOR; TTN PROTEIN, HUMAN;

ALLELE; CARDIOMYOPATHY; CENTRONUCLEAR MYOPATHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MULTIMINICORE DISEASE; NEUROMUSCULAR DISEASE; NEXT GENERATION SEQUENCING; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; RESPIRATORY FAILURE; REVIEW; TIBIAL MUSCULAR DYSTROPHY; TTN GENE; DEFICIENCY; DISTAL MYOPATHY; GENETIC DISORDER; GENETICS; HIGH THROUGHPUT SEQUENCING; MUSCLE DISEASE; MUTATION; MYOPATHY; OPHTHALMOPLEGIA;

CONNECTIN; DISTAL MYOPATHIES; GENETIC DISEASES, INBORN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NEUROMUSCULAR DISEASES; OPHTHALMOPLEGIA; RESPIRATORY INSUFFICIENCY; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 85015478641     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-160158     Document Type: Review

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