Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G

Neuromuscular Disorders

Volumn 25, Issue 4, 2015, Pages 349-352

  Barresi, Rita ^a,b   Morris, Charlotte ^a   Hudson, Judith ^b   Curtis, Elizabeth ^c   Pickthall, Clare ^b   Bushby, Kate ^b   Davies, Nicholas P ^c   Straub, Volker ^b  

^a NEWCASTLE DENTAL HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Immunohistochemistry; Limb girdle muscular dystrophy; Telethonin; Western blot

Indexed keywords

AMINO ACID; CREATINE KINASE; FILAMIN; FILAMIN C; MUTANT PROTEIN; TELETHONIN; UNCLASSIFIED DRUG; CONNECTIN; TCAP PROTEIN, HUMAN;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; ELECTRON MICROSCOPY; EXON; FLEXION CONTRACTURE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MYOTONIC DYSTROPHY; NONSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; TCAP GENE; WESTERN BLOTTING; DELTOID MUSCLE; GENETICS; LIMB GIRDLE MUSCULAR DYSTROPHY; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; SARCOMERE;

CONNECTIN; DELTOID MUSCLE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; SARCOMERES;

EID: 84925273272     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.12.006     Document Type: Article

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