Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neurology

Volumn 77, Issue 24, 2011, Pages 2105-2114

  Guergueltcheva, V ^a   Peeters, K ^b,c   Baets, J ^b,c,f   Ceuterick De Groote, C ^b   Martin, J J ^b   Suls, A ^b,c   De Vriendt, E ^b,c   Mihaylova, V ^a   Chamova, T ^a   Almeida Souza, L ^b,c   Ydens, E ^b,c   Tzekov, C ^d   Hadjidekov, G ^e   Gospodinova, M ^a   Storm, K ^f   Reyniers, E ^f   Bichev, S ^a   Van Der Ven, P F M ^g   Furst D O ^g   Mitev, V ^a   Lochmuller H ^h   Timmerman, V ^b,c   Tournev, I ^a,i   De Jonghe, P ^b,c,f   Jordanova, A ^a,b,c   more..

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d Tokuda Hospital Sofia   (Bulgaria)

^e UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITY OF BONN   (Germany)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ NEW BULGARIAN UNIVERSITY   (Bulgaria)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; FILAMIN C; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 7Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISTAL MYOPATHY; ELECTRON MICROSCOPY; ELECTROPHYSIOLOGY; FAMILY; FILAMIN C HAPLOINSUFFICIENCY; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HISTOPATHOLOGY; HUMAN; LINKAGE ANALYSIS; LYMPHOBLAST; MYOFIBRILLAR MYOPATHY; MYOPATHY; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RADIOLOGY;

EID: 84862930850     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31823dc51e     Document Type: Article

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