Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 87, Issue 4, 2016, Pages 448-450

  Palmio, Johanna ^a   Evilä, Anni ^b   Bashir, Ayat ^c   Norwood, Fiona ^d   Viitaniemi, Kati ^a   Vihola, Anna ^b   Huovinen, Sanna ^e   Straub, Volker ^f   Hackman, Peter ^b   Hirano, Michio ^g   Bushby, Kate ^f   Udd, Bjarne ^a,b,h  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

^e TAMPERE UNIVERSITY HOSPITAL   (Finland)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g Medical Centre ^*  (United States)

^h VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; CYSTEINE; MATRIN 3; MYOSIN; NUCLEAR PROTEIN; PROTEIN P62; SERINE; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG; MATR3 PROTEIN, HUMAN; NUCLEAR MATRIX PROTEIN; RNA BINDING PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DISTAL MYOPATHY; DYSPHAGIA; DYSPNEA; ELECTROMYOGRAPHY; EXOME; FAMILY STUDY; FEMALE; FORCED VITAL CAPACITY; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; MALE; MATR3 GENE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT SURVEY; VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY; WESTERN BLOTTING; AGED; CASE REPORT; COMPLICATION; DISEASE COURSE; GENETICS; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; PATHOLOGY; PEDIGREE; PHARYNX DISEASE; VOCAL CORD DISORDER;

ADULT; AGE OF ONSET; AGED; DISEASE PROGRESSION; FEMALE; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; NUCLEAR MATRIX-ASSOCIATED PROTEINS; PEDIGREE; PHARYNGEAL DISEASES; PHENOTYPE; RNA-BINDING PROTEINS; VOCAL CORD DYSFUNCTION;

EID: 84930526442     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2014-309349     Document Type: Short Survey

References (12)

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