Lower limb radiology of distal myopathy due to the S60F myotilin mutation

European Neurology

Volumn 62, Issue 3, 2009, Pages 161-166

  McNeill, Alisdair ^a   Birchall, Daniel ^b   Straub, Volker ^c   Goldfarb, Lev ^d   Reilich, Peter ^e   Walter, Maggie C ^e   Schramm, Nicolai ^f   Lochmüller, Hanns ^c   Chinnery, Patrick F ^c,g  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^b NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^c INSTITUTE OF HUMAN GENETICS   (United Kingdom)

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

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f UNIVERSITY OF MUNICH   (Germany)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Distal myopathies; Lower limb radiology; Myotilinopathy; S60F myotilin mutation; Titin myopathy; TTID mutation; Welander distal myopathy

Indexed keywords

ADULT; AGED; ARTICLE; BICEPS BRACHII MUSCLE; CLINICAL ARTICLE; CLINICAL FEATURE; DISTAL MYOPATHY; EXTENSOR MUSCLE; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; GENETIC SCREENING; GRACILIS FLAP; HUMAN; LEG; MYOPATHY; MYOTILIN GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SOLEUS MUSCLE; TIBIALIS ANTERIOR MUSCLE; XENOGRAFT;

ADULT; AGED; CYTOSKELETAL PROTEINS; DISTAL MYOPATHIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; POINT MUTATION;

EID: 67649884494     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000227266     Document Type: Article

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